Genomics Precision Diagnostic > Prenatal > Cleft Lip and Palate Precision Panel

Cleft Lip and Palate Precision Panel

Cleft Lip and Palate (CLP) are a group of malformations of unknown etiology with overlapping phenotypes affecting both females and males. They are the most common congenital malformations of the craniofacial region.

Overview

Cleft Lip and Palate (CLP) are a group of malformations of unknown etiology with overlapping phenotypes affecting both females and males. They are the most common congenital malformations of the craniofacial region. Cleft lip and palate can be an isolated finding (non-syndromic), or they can present as a syndromic form. In general, sporadic cases with no family history are related to environmental risks, while the presence of one or more affected relatives strongly suggests that genetic factors are the main contributor. The etiology is multifactorial including both genetic predisposition and environmental factors. Individuals with cleft lip and/or palate may experience difficulties with feeding, talking, hearing and social integration. Typically, individuals affected with these disorders have a higher morbidity and mortality throughout life than do unaffected individuals.
The Igenomix Cleft Lip and Palate Precision Panel can be used to make a directed and accurate diagnosis of syndromic versus nonsyndromic causes of cleft lip and/or palate ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Cleft Lip and Palate Precision Panel is indicated for those patients with a clinical suspicion or diagnosis presenting with the following manifestations:
- Split in the lip and/or roof of the mouth
- Feeding difficulty
- Difficulty swallowing
- Nasal speaking voice
- Chronic ear infections

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of multidisciplinary treatment including surgical repair and prevention for future pregnancies if actionable.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.
Identification of the genetic basis of these associated disorders for a better insight into the mechanisms of craniofacial development.

Genes & Diseases

See all genes and diseases

Gene	OMIM Diseases	Inheritance*	% Gene Coverage (20x)	HGMD**
*ABCA12*	Multiple Ichthyosis Types	AR	100	151 of 153
*ABCA4*	Cone-Rod Dystrophy, Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease	AD,AR	100	1392 of 1430
*ACACB*	Biotin Deficiency, Fatty Liver Disease, Diabetes Mellitus	–	99	9 of 9
*ACBD5*	Retinal Dystrophy, Leukodystrophy	AR	100	3 of 3
*ACSS2*	Cleft Lip, Cystoisosporiasis, Cardiomyopathy, Canavan Disease	–	96.99	1 of 1
*ACTB*	Baraitser-Winter Syndrome, Dystonia, Becker Nevus Syndrome, Deafness	AD	100	40 of 40
*ACTC1*	Atrial Septal Defect, Cardiomyopathy	AD	99.93	72 of 74
*ACTG2*	Visceral Myopathy, Megacystis, Microcolon, Intestinal Hypoperistalsis	AD	99.91	23 of 23
*ADA2*	Polyarteritis Nodosa, Sneddon Syndrome, Blackfan-Diamond Anemia	AR	100	–
*ADH7*	Gastritis	–	99.87	–
*AHDC1*	Xia-Gibbs Syndrome, Intellectual Disability, Obstructive Sleep Apnea	AD	99.87	41 of 43
*AHI1*	Joubert Syndrome, Retinitis Pigmentosa	AR	96.79	85 of 97
*ALG3*	Congenital Disorder Of Glycosylation	AR	99.2	25 of 25
*ALX1*	Frontonasal Dysplasia, Cleft Lip Palate	AR	100	3 of 3
*ALX3*	Frontonasal Dysplasia, Frontorhiny	AR	89.31	8 of 8
*ALX4*	Craniosynostosis, Frontonasal Dysplasia, Parietal Foramina, Scaphocephaly, Potocki-Shaffer Syndrome	AD,AR	99.94	25 of 25
*AMELX*	Amelogenesis Imperfecta	X,XD,G	100	–
*AMER1*	Osteopathia Striata, Cranial Sclerosis	X,XD,G	99.45	–
*AMMECR1*	Midface Hypoplasia, Hearing Impairment, Elliptocytosis, Nephrocalcinosis, Alport Syndrome, Intellectual Disability	X,XR,G	99.81	–
*ANKRD11*	Kbg Syndrome, 16q24.3 Microdeletion Syndrome	AD	99.6	119 of 124
*ANOS1*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	X,XR,G	96.86	–
*ARCN1*	Short Stature, Rhizomelic, Microcephaly, Micrognathia, Developmental Delay	AD	99.91	4 of 4
*ARHGAP29*	Cleft Lip/Palate	–	99.87	19 of 19
*ARHGAP31*	Adams-Oliver Syndrome	AD	100	6 of 6
*ARID1A*	Coffin-Siris Syndrome	AD	95.32	40 of 42
*ARID1B*	Coffin-Siris Syndrome, 6q25 Microdeletion Syndrome	AD	93.87	226 of 238
*ARID2*	Coffin-Siris Syndrome	AD	99.97	17 of 17
*ARID5B*	Leukemia, Adenoid Cystic Carcinoma	–	99.92	3 of 3
*ARNT2*	Webb-Dattani Syndrome, Septo-Optic Dysplasia Spectrum	AR	100	5 of 5
*ARVCF*	22q11.2 Deletion Syndrome	–	99.95	2 of 2
*ARX*	Corpus Callosum, Epileptic Encephalopathy, Lissencephaly, Mental Retardation, Partington Syndrome, West Syndrome	X,XR,G	81.92	–
*ASXL1*	Bohring-Opitz Syndrome, Myelodysplastic Syndrome, Mastocytosis, Bohring-Opitz Syndrome	AD	99.96	41 of 41
*ATN1*	Congenital Hypotonia, Developmental Delay, Dentatorubral- Pallidoluysian Atrophy, Naito-Oyanagi Disease, Ataxia, Chorea, Seizures, Dementia	AD	99.86	11 of 11
*ATP6V1B2*	Deafness, Onychodystrophy, Zimmermann- Laband Syndrome, Deafness	AD	100	5 of 5
*ATR*	Cutaneous Telangiectasia And Cancer Syndrome, Seckel Syndrome	AD,AR	99.98	39 of 40
*ATRX*	Alpha-Thalassemia Myelodysplasia Syndrome, Carpenter-Waziri Syndrome, Chudley-Lowry-Hoal Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Smith-Fineman- Myers Syndrome	X,XR,XD,G	98.5	–
*B3GALNT2*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Intellectual Disability, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	97.14	17 of 17
*B3GALT6*	Ehlers-Danlos Syndrome, Spondyloepimetaphyseal Dysplasia, Joint Laxity	AR	65.09	24 of 39
*B3GAT3*	Multiple Joint Dislocations, Craniofacial Dysmorphism	AR	99.86	15 of 15
*B3GLCT*	Peters-Plus Syndrome	AR	99.96	–
*B4GALT7*	Ehlers-Danlos Syndrome	AR	99.92	11 of 11
*B4GAT1*	Limb Girdle Muscular Dystrophy, Walker-Warburg Syndrome	AR	–	–
*B9D1*	Joubert Syndrome, Meckel Syndrome	AR	90.23	11 of 11
*B9D2*	Meckel Syndrome	AR	84.81	4 of 5
*BCOR*	Microphthalmia, Promyelocytic Leukemia, Oculofacio- cardiodental Syndrome	X,XD,G	99.87	–
*BCR*	Leukemia, 22q11.2 Microdeletion Syndrome	MU,P	97.78	–
*BGN*	Meester-Loeys Syndrome, Spondyloepimetaphyseal Dysplasia	X,XR,G	99.87	–
*BIN1*	Myopathy	AR	100	20 of 20
*BMP2*	Brachydactyly, Hemochromatosis, Short Stature, Skeletal Anomalies, Cardiac Anomalies, 20p12.3 Microdeletion Syndrome	AD,AR	99.48	12 of 12
*BMP4*	Microphthalmia, Cleft Lip/Palate	AD,MU,P	100	38 of 42
*BMPER*	Diaphanos- pondylodysostosis	AR	99.98	22 of 22
*BPNT2*	Chondrodysplasia, Joint Dislocations	AR	97.04	4 of 4
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Lung Cancer, Noonan Syndrome, Craniopharyngioma	AD	100	80 of 80
*BRCA1*	Breast And Ovarian Cancer, Fanconi Anemia, Pancreatic Carcinoma, Primary Peritoneal Carcinoma	AD,AR,MU	98.97	2783 of 2894
*BRCA2*	Breast And Ovarian Cancer, Fanconi Anemia, Glioma, Medulloblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor, Nephroblastoma	AD,AR,MU	98.51	3343 of 3451
*BRIP1*	Fanconi Anemia, Breast And Ovarian Cancer	AD,AR	94.97	235 of 237
*BUB1*	Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome	AD	99.76	18 of 19
*BUB1B*	Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome	AD,AR	99.84	30 of 31
*BUB3*	Mosaic Variegated Aneuploidy Syndrome	–	99.98	6 of 6
*C2CD3*	Orofaciodigital Syndrome	AR	97.25	18 of 18
*CADPS*	Jejunal Somatostatinoma, Acrofacial Dysostosis	–	97.52	5 of 5
*CARS1*	Microcephaly, Developmental Delay, Brittle Hair Syndrome	AR	100	7 of 7
*CASK*	Anemia, Fg Syndrome, Mental Retardation, Microcephaly, Pontine, Cerebellar Hypoplasia, Epileptic Encephalopathy	X,XR,XD,G	99.98	–
*CBFB*	Leukemia	AD	100	–
*CC2D2A*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.43	98 of 100
*CCDC141*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AR	99.7	1 of 1
*CCDC22*	Ritscher-Schinzel Syndrome	X,XR,G	99.94	–
*CD96*	C Syndrome	AD	100	4 of 4
*CDC45*	Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome	AR	99.99	19 of 19
*CDC6*	Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome	AR	100	2 of 2
*CDH1*	Blepharocheilodontic Syndrome, Breast Cancer, Endometrial Carcinoma, Gastric Cancer, Prostate Cancer, Suppressor Of Tumorigenicity, Blepharo-Cheilo- Odontic Syndrome, Cleft Lip/Palate	AD	100	361 of 363
*CDH11*	Elsahy-Waters Syndrome, Branchioskeletogenital Syndrome	AR	99.95	10 of 10
*CDH19*	Charge Syndrome, Mocrophthalmia, Coloboma	–	98.64	2 of 2
*CDKL5*	Epileptic Encephalopathy, Rett Syndrome, West Syndrome	X,XD,G	99.92	–
*CDKN1C*	Beckwith-Wiedemann Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Hypoplasia, Genital Anomalies, Image Syndrome, Diabetes	AD	73.58	55 of 76
*CDON*	Holoprosencephaly, Pituitary Stalk Interruption Syndrome	AD	100	15 of 15
*CDT1*	Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome	AR	97.43	12 of 12
*CENPF*	Stromme Syndrome	AR	98.83	10 of 12
*CEP120*	Joubert Syndrome, Short-Rib Thoracic Dysplasia, Jeune Syndrome	AR	99.8	9 of 9
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Amaurosis, Meckel Syndrome, Senior-Loken Syndrome	AR	96.47	293 of 327
*CEP41*	Joubert Syndrome	AR	100	17 of 17
*CEP55*	Multinucleated Neurons, Renal Dysplasia, Cerebellar Hypoplasia, Hydranencephaly, Meckel Syndrome	AR	99.22	3 of 3
*CEP57*	Mosaic Variegated Aneuploidy Syndrome	AR	99.64	6 of 6
*CFDP1*	Inflammatory Bowel Disease	–	98.99	1 of 1
*CHD7*	Charge Syndrome, Hypogonadotropic Hypogonadism, Kallmann Syndrome, Omenn Syndrome	AD	96.25	823 of 896
*CHN1*	Duane Retraction Syndrome	AD	92.41	11 of 11
*CHN2*	Schizophrenia, Neuropathy Of Dejerine-Sottas	–	99.94	–
*CHRNA1*	Multiple Pterygium Syndrome, Myasthenic Syndrome	AD,AR	100	35 of 35
*CHRNA7*	15q13.3 Microdeletion Syndrome	AD	82.09	2 of 2
*CHRND*	Multiple Pterygium Syndrome, Myasthenic Syndrome	AD,AR	100	31 of 31
*CHRNG*	Multiple Pterygium Syndrome	AR	100	36 of 36
*CHST14*	Ehlers-Danlos Syndrome	AR	97.7	21 of 22
*CHST3*	Multiple Joint Dislocations, Craniofacial Dysmorphism, Spondyloepiphyseal Dysplasia, Skeletal Dysplasia	AR	99.97	38 of 38
*CHSY1*	Temtamy Preaxial Brachydactyly Syndrome	AR	96.64	13 of 16
*CILK1*	Endocrine- Cerebroosteodysplasia, Epilepsy	AD,AR	100	–
*CLPTM1*	Cleft Lip, Ogden Syndrome, Vander Woude Syndrome	–	97	3 of 3
*CLPTM1L*	Cleft Lip, Germ Cell Cander, Testicular Cancer	–	100	1 of 1
*COG1*	Congenital Disorder Of Glycosylation	AR	99.91	3 of 3
*COG5*	Congenital Disorder Of Glycosylation	AR	100	19 of 19
*COL11A1*	Deafness, Marshall Syndrome, Stickler Syndrome, Rhizomelic Dysplasia,	AD,AR	100	104 of 106
*COL11A2*	Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal Dysplasia, Stickler Syndrome	AD,AR	99.98	58 of 58
*COL2A1*	Achondrogenesis, Necrosis Of Femoral Head, Multiple Dysplasia Types, Legg-Calve-Perthes Disease, Osteoarthritis, Stickler Syndrome, Dysspondylo- enchondromatosis	AD,MU	100	583 of 583
*COL4A1*	Angiopathy, Nephropathy, Aneurysms, Leukoencephalopathy, Hanac Syndrome, Walker-Warburg Syndrome	AD	99.99	173 of 173
*COL9A1*	Epiphyseal Dysplasia, Stickler Syndrome	AD,AR	99.98	8 of 8
*COL9A2*	Epiphyseal Dysplasia, Stickler Syndrome	AD,AR	100	16 of 16
*COL9A3*	Epiphyseal Dysplasia, Stickler Syndrome	AD	99.98	20 of 20
*COLEC10*	3mc Syndrome	AR	99.95	3 of 3
*COLEC11*	Carnevale Syndrome, 3mc Syndrome	AR	100	11 of 11
*COMT*	Panic Disorder, Schizophrenia, 22q11.2 Deletion Syndrome	AD	99.98	5 of 5
*CPLANE1*	Joubert Syndrome, Varadi-Papp Syndrome, Monomelic Amyotrophy, Orofaciodigital Syndrome	AR	–	–
*CPLX1*	Epileptic Encephalopathy, Wolf-Hirschhorn Syndrome	AD,AR	99.81	3 of 3
*CREBBP*	Menke-Hennekam Syndrome, Rubinstein- Taybi Syndrome	AD	100	318 of 318
*CRISPLD2*	Cleft Lip/Palate, Van Der Woude Syndrome,	–	99	–
*CRKL*	22q11.2 Microdeletion Syndrome	–	99.93	5 of 6
*CRPPA*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	97.69	–
*CRYZ*	Septic Myocarditis	–	99.92	–
*CSPP1*	Joubert Syndrome, Meckel Syndrome	AR	98.32	29 of 30
*CTBP1*	Hypotonia, Developmental Delay, Wolf-Hirschhorn Syndrome	AD	98.45	1 of 1
*CTCF*	Mental Retardation, Developmental Delay, Microcephaly	AD	96.6	39 of 41
*CTNND1*	Blepharocheilodontic Syndrome	AD	99.89	17 of 17
*CYP26C1*	Focal Facial Dermal Dysplasia	AR	97.95	14 of 14
*CYTB*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Histiocytoid Cardiomyopathy, Neuropathy	MI	98.8	–
*DAB1*	Spinocerebellar Ataxia	AD	99.98	–
*DAG1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Leucodystrophy, Walker-Warburg Syndrome	AR	99.98	9 of 9
*DCC*	Colorectal Cancer, Esophageal Cancer, Gaze Palsy, Mirror Movements, Horizontal Gaze Palsy, Progressive Scoliosis, Kallmann Syndrome	AD,AR	94	39 of 39
*DDX3X*	Intellectual Developmental Disorder, Hypotonia	X,XR,XD,G	99.03	–
*DDX59*	Orofaciodigital Syndrome	AR	99.45	4 of 6
*DEAF1*	Dyskinesia, Seizures, Intellectual Developmental Disorder, Epilepsy, Extrapyramidal Syndrome, Smith- Magenis Syndrome	AD,AR	93.55	42 of 42
*DENND4B*	Alkuraya-Kucinskas Syndrome, Boucher- Neuhauser Syndrome, Oliver-Mcfarlane Syndrome, Mitochondrial Complex I Deficiency	–	99.95	1 of 1
*DGCR2*	Velocardiofacial Syndrome	AD	99.94	3 of 3
*DGCR6*	Velocardiofacial Syndrome	AD	94.78	–
*DGCR8*	Velocardiofacial Syndrome	AD	99.98	2 of 2
*DHCR24*	Desmosterolosis	AR	100	10 of 10
*DHCR7*	Smith-Lemli-Opitz Syndrome	AR	100	217 of 217
*DHODH*	Postaxial Acrofacial Dysostosis	AR	99	20 of 20
*DISP1*	Multiple Holopro- sencephaly Types	–	100	10 of 10
*DLG1*	Cleft Lip/Palate	–	99.96	15 of 15
*DLL1*	Neurodevelopmental Disorder, Brain Abnormalities, Multiple Holoprosencephaly Types	AD	99.83	15 of 15
*DLL3*	Spondylocostal Dysostosis	AR	96.03	26 of 28
*DLX4*	Cleft Lip/Palate	AD	98.69	2 of 2
*DLX5*	Split-Hand And Foot Malformation, Hearing Loss	AD,AR	99.98	8 of 8
*DMXL2*	Deafness, Epileptic Encephalopathy, Polyendocrine- Syndrome	AD,AR	99.83	19 of 23
*DOK7*	Akinesia Deformation, Myasthenia, Myasthenic Syndromes	AR	99.88	72 of 72
*DONSON*	Microcephaly, Micromelia, Short Stature, Limb Abnormalities	AR	98.14	26 of 27
*DPF2*	Coffin-Siris Syndrome	AD	99.99	10 of 10
*DPH1*	Developmental Delay, Short Stature, Dysmorphic Features, Sparse Hair, Craniofacial Dysplasia, Ectodermal Anomalies, Intellectual Disability	AR	100	8 of 8
*DSE*	Ehlers-Danlos Syndrome	AR	99.94	3 of 3
*DUSP22*	Variola Major, T-Cell Lymphoma	–	100	–
*DUSP6*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD,AR	99.36	4 of 4
*DVL1*	Robinow Syndrome	AD	100	20 of 20
*DVL3*	Robinow Syndrome	AD	100	16 of 16
*DYNC2H1*	Short-Rib Thoracic Dysplasia, Jeune Syndrome, Polydactyly	AR,MU,D	99.78	214 of 221
*DYNC2I1*	Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome	AR	97.76	14 of 14
*DYNC2I2*	Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome	AR	99.54	23 of 23
*DYRK1A*	Mental Retardation, 21q22.13q22.2 Microdeletion	AD	99.85	78 of 81
*EARS2*	Oxidative Phosphorylation Deficiency	AR	98.8	31 of 31
*EBP*	Mend Syndrome, Chondrodysplasia Punctata	X,XR,XD,G	100	–
*ECEL1*	Arthrogryposis	AR	99.52	39 of 39
*EDN1*	Auriculocondylar Syndrome, Question Mark Ears	AD,AR	100	9 of 9
*EDNRA*	Mandibulofacial Dysostosis, Alopecia, Migraine	AD	99.67	3 of 4
*EFNB1*	Craniofrontonasal Syndrome	X,XD,G	100	–
*EFTUD2*	Mandibulofacial Dysostosis, Microcephaly	AD	99.87	100 of 100
*EIF2S3*	Mehmo Syndrome	X,XR,G	98.64	–
*EIF4A3*	Robin Sequence, Cleft Mandible	AR	100	1 of 1
*EPG5*	Immunodeficiency, Cleft Lip/Palate, Cataract, Hypopigmentation, Corpus Callosum, Vici Syndrome	AR	98.98	73 of 73
*ERCC4*	Fanconi Anemia, Xeroderma Pigmentosum, Xfe Progeroid Syndrome, Cockayne Syndrome	AR	99.68	69 of 72
*ERCC5*	Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum, Cofs Syndrome, Cockayne Syndrome	AR	99.94	58 of 58
*ESCO2*	Roberts Syndrome, Sc Phocomelia Syndrome	AR	99.69	32 of 32
*ESRP2*	Cleft Lip/Palate, Laurence-Moon Syndrome, Atrial Septal Defect	–	99.08	5 of 5
*ESS2*	Velocardiofacial Syndrome	AD	99.91	–
*EVC*	Ellis-Van Creveld Syndrome, Weyers Acrofacial Dysostosis	AD,AR	94.04	68 of 73
*EVC2*	Ellis-Van Creveld Syndrome, Weyers Acrofacial Dysostosis	AD,AR	99.98	75 of 75
*EXOC6B*	Spondyloepimetaphyseal Dysplasia, Joint Laxity	AR	99.99	2 of 3
*EYA1*	Branchiootic Syndrome, Branchiootorenal Syndrome, Otofaciocervical Syndrome	AD	100	197 of 199
*FAM149B1*	Joubert Syndrome, Orofaciodigital Syndrome	AR	99.94	2 of 2
*FAM20C*	Raine Syndrome, Osteosclerotic Bone Dysplasia	AR	97.8	29 of 29
*FAM50A*	Mental Retardation Syndrome	X,XR,G	99.88	–
*FANCA*	Fanconi Anemia	AR	95.17	497 of 502
*FANCB*	Fanconi Anemia, Vacterl, Hydrocephalus	X,XR,G	95.53	–
*FANCC*	Fanconi Anemia	AR	100	75 of 75
*FANCD2*	Fanconi Anemia	AR	100	62 of 63
*FANCE*	Fanconi Anemia	AR	97	17 of 18
*FANCF*	Fanconi Anemia	AR	99.31	17 of 18
*FANCG*	Fanconi Anemia	–	100	94 of 94
*FANCI*	Fanconi Anemia	AR	100	53 of 54
*FANCL*	Fanconi Anemia	AR	100	25 of 26
*FANCM*	Spermatogenic Failure, Fanconi Anemia	AR	99.73	59 of 61
*FBLN1*	Synpolydactyly, Developmental Delay, Central Nervous System Anomaly	AD	98.03	4 of 4
*FEZF1*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AR	99.95	3 of 3
*FGD1*	Aarskog-Scott Syndrome	X,XR,G	98.95	–
*FGF10*	Aplasia Of Lacrimal And Salivary Glands, Lacrimoauriculodentodigital Syndrome,	AD	100	13 of 14
*FGF17*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD,AR	99.98	8 of 8
*FGF20*	Renal Hypodysplasia, Renal Agenesis	AR	99.76	2 of 2
*FGF8*	Hypogonadotropic Hypogonadism, Holoprosencephaly, Kallmann Syndrome	AD	98.36	38 of 38
*FGF9*	Multiple Synostoses Syndrome	AD	100	2 of 2
*FGFR1*	Encephalo- craniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Kallmann Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndrome, Trigonocephaly, Holoprosencephaly, Hypogonadotropic Hypogonadism, Oligodontia	AD	100	279 of 280
*FGFR2*	Antley-Bixler Syndrome, Genital Anomalies, Apert Syndrome, Bent Bone Dysplasia Syndrome, Crouzon Syndrome, Cutis Gyrata Syndrome Of Beare And Stevenson, Scaphocephaly Syndrome, Jackson- Weiss Syndrome, Lacrimoa- uriculodentodigital Syndrome, Pfeiffer Syndrome, Saethre- Chotzen Syndrome	AD	98	140 of 143
*FGFR3*	Achondroplasia, Camptodactyly, Multiple Cancer Types, Crouzon Syndrome, Epidermal Nevus, Hypochondroplasia, Lacrimoauriculo- dentodigital Syndrome, Muenke Syndrome, Thanatophoric Dysplasia, Brachycephaly, Plagiocephaly, Saethre-Chotzen Syndrome	AD,AR	99.89	77 of 78
*FGFRL1*	Wolf-Hirschhorn Syndrome	AD	99.94	1 of 1
*FKBP14*	Ehlers-Danlos Syndrome, Kyphoscoliosis, Myopathy	AR	99.98	7 of 8
*FKRP*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Cardiomyopathy, Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	98	54 of 56
*FLII*	Smith-Magenis Syndrome	–	99.98	3 of 3
*FLNA*	Cardiac Valvular Dysplasia, FgSyndrome, Frontometaphyseal Dysplasia, Heterotopia, Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome, Terminal Osseous Dysplasia, Congenital Short Bowel Syndrome, Ehlers-Danlos Syndrome	X,XR,XD,G	100	–
*FLNB*	Atelosteogenesis, Boomerang Dysplasia, Larsen Syndrome, Spondylocarpotarsal Synostosis Syndrome	AD,AR	100	124 of 124
*FLRT3*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD	99.98	7 of 7
*FOXA2*	Multiple Pituitary Hormone Deficiencies	–	97.66	7 of 8
*FOXC2*	Lymphedema- Distichiasis Syndrome	AD	87.59	54 of 95
*FOXE1*	Hypothyroidism, Cleft Palate, Thyroid Cancer, Athyreosis, Bamforth-Lazarus Syndrome, Papillary Or Follicular Thyroid Carcinoma	AD,AR	84.65	14 of 22
*FOXF1*	Alveolar Capillary Dysplasia	AD	95.93	74 of 96
*FOXF2*	Anterior Segment Dysgenesis, Cleft Lip/Palate, Axenfeld- Rieger Syndrome	–	85.21	3 of 4
*FOXH1*	Holoprosencephaly	–	98.72	30 of 33
*FOXP2*	Apraxia Of Speech	AD	100	17 of 17
*FRAS1*	Fraser Syndrome	AR	98.73	57 of 58
*FREM2*	Cryptophthalmos, Fraser Syndrome	AR	99.92	31 of 33
*FTO*	Growth Retardation, Developmental Delay	AR	99.91	8 of 8
*FZD2*	Omodysplasia, Robinow Syndrome	AD	98.63	7 of 7
*FZD6*	Nail Disorder	AR	99.98	16 of 16
*G6PC3*	Neutropenia	AR	100	45 of 45
*GAS1*	Holoprosencephaly	–	95.93	6 of 6
*GATA1*	Anemia, Neutropenia, Down Syndrome, Thrombocytopenia, Hemolysis, Beta- Thalassemia, Blackfan-Diamond Anemia, Erythropoietic Porphyria	X,XR,G	99.93	–
*GATA3*	Hypoparathyroidism, Deafness, Renal Disease	AD	100	81 of 81
*GDF3*	Klippel-Feil Syndrome, Microphthalmia	AD,MU,D	99.1	10 of 10
*GDF6*	Klippel-Feil Syndrome, Leber Congenital Amaurosis, Microphthalmia	AD,AR,MU,D	98.58	19 of 19
*GJA1*	Alopecia, Keratosis Palmoplantaris, Atrioventricular Septal Defect, Oculodentodigital Dysplasia, Craniometaphyseal Dysplasia, Erythrokeratodermia Variabilis, Left Heart Syndrome, Syndactyly	AD,AR,MU,O	100	119 of 119
*GJB2*	Deafness, Keratoderma, Knuckle Pads, Leukonychia, Kid Syndrome, Hyperkeratosis	AD,AR,X,XR,MU,D,G	99.89	413 of 419
*GLI2*	Holoprosencephaly, Pallister-Hall Syndrome, Pituitary Hormone Deficiencies	AD	98.38	83 of 88
*GLI3*	Greig Cephalopolysyndactyly Syndrome, Hypothalamic Hamartoma Syndrome, Pallister-Hall Syndrome, Polydactyly, Acrocallosal Syndrome, Tibial Hemimelia	AD,AR	100	231 of 231
*GMNN*	Meier-Gorlin Syndrome	AD	99.72	3 of 3
*GMPPB*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Myasthenic Syndromes, Glycosylation Defect, Muscle-Eye- Brain Disease	AR	99.95	53 of 53
*GNAI3*	Auriculocondylar Syndrome	AD	99.95	12 of 12
*GNAO1*	Epileptic Encephalopathy, Neurodevelopmental Disorder	AD	100	47 of 47
*GNB1*	Leukemia, Mental Retardation, Developmental Delay, Seizures	AD,MU,P	100	31 of 31
*GNRH1*	Hypogonadotropic Hypogonadism	AR	100	12 of 12
*GNRHR*	Hypogonadotropic Hypogonadism	AR	100	59 of 59
*GP1BB*	Bernard-Soulier Syndrome, 22q11.2 Deletion Syndrome, Thrombocytopenia	AR	74.08	26 of 50
*GPC3*	Simpson-Golabi- Behmel Syndrome, Wilms Tumor, Nephroblastoma	AD,X,XR,G	99.84	–
*GPC4*	Keipert Syndrome, Simpson-Golabi- Behmel Syndrome, Wilms Tumor	AD,X,XR,G	98.43	–
*GPC6*	Omodysplasia	AR	99.92	3 of 3
*GREB1L*	Renal Agenesis	AD	97.94	41 of 41
*GREM1*	Hereditary Mixed Polyposis Syndrome	–	99.89	5 of 5
*GRHL3*	Van Der Woude Syndrome, Bifid Uvula, Cleft Velum	AD	99.99	29 of 29
*GRIP1*	Fraser Syndrome	AR	100	17 of 17
*HAAO*	Vertebral, Cardiac, Renal, And Limb Defects Syndrome	AR	100	2 of 2
*HDAC8*	Cornelia De Lange, Wilson-Turner Syndrome	X,XD,G	99.78	–
*HES7*	Spondylocostal Dysostosis	AR	85.76	4 of 6
*HESX1*	Septooptic Dysplasia, Pituitary Hormone Deficiencies, Hypothyroidism, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome	AD,AR	100	26 of 26
*HIRA*	22q11.2 Deletion Syndrome	–	99.99	5 of 5
*HNRNPK*	Au-Kline Syndrome	AD	99.88	16 of 17
*HOXA2*	Microtia, Cleft Palate	AD,AR	99.93	5 of 5
*HOXD13*	Brachydactyly, Syndactyly, Synpolydactyly, Vacterl	AD	90.98	21 of 31
*HS6ST1*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD	99.97	8 of 8
*HSPG2*	Dyssegmental Dysplasia, Schwartz- Jampel Syndrome	AR	99.41	68 of 69
*HYAL1*	Mucopolysaccharidosis, Hyaluronidase Deficiency	AR	99.83	4 of 4
*HYAL2*	Cor Triatriatum, Mucopolysaccharidosis, Cleft Lip/Palate	–	99.98	2 of 2
*HYLS1*	Hydrolethalus Syndrome, Joubert Syndrome	AR	100	2 of 2
*IFT140*	Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia, Polydactyly, Jeune Syndrome, Leber Congenital Amaurosis	AR	99.97	81 of 81
*IFT57*	Orofaciodigital Syndrome	AR	99.8	2 of 2
*IFT80*	Asphyxiating Thoracic Dystrophy, Jeune Syndrome, Short Rib-Polydactyly Syndrome	AR	99.96	16 of 16
*IFT88*	Retinitis Pigmentosa	–	99.46	6 of 6
*IGBP1*	Corpus Callosum, Ocular Coloboma, Micrognathia	X,XR,G	100	–
*IGF1R*	Growth Delay, Insulin-Like Growth Factor I Resistance	AD,AR	100	72 of 73
*IL17RD*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD,AR	99.95	17 of 17
*IL1B*	Gastric Cancer	AD	100	2 of 2
*IL1RN*	Gastric Cancer, Osteomyelitis, Periostitis, Pustulosis	AD,AR	100	10 of 11
*INPP5E*	Joubert Syndrome, Mental Retardation, Retinal Dystrophy	AR	99.89	56 of 56
*INPPL1*	Opsismodysplasia, Schneckenbecken Dysplasia	AR	95.41	29 of 31
*INTS1*	Neurodevelopmental Disorder, Cataracts, Poor Growth, Dysmorphic Facies	AR	98.94	9 of 9
*INTU*	Orofaciodigital Syndrome, Short-Rib Throacic Dysplasia, Polydactyly	AR	99.7	9 of 9
*IQSEC2*	Mental Retardation, Microduplication Xp11.22p11.23 Syndrome, Intellectual Disability, Microcephaly, Smith- Magenis Syndrome	X,XR,XD,G	99.73	–
*IRF6*	Orofacial Cleft, Popliteal Pterygium Syndrome, Van Der Woude Syndrome, Popliteal Pterygium Syndrome, Cleft Lip/Palate, Oligodontia	AD,MU,P	99.98	325 of 335
*ISM1*	Systemic Mastocytosis	–	99.17	–
*ITGA8*	Renal Hypodysplasia/ Aplasia, Renal Agenesis	AR	99.68	7 of 7
*JAG2*	Alagille Syndorme, Hajdu-Cheney Syndrome, Cereblar Arteriopathy, Tongue Carcinoma	–	98.34	3 of 3
*JMJD1C*	22q11.2 Deletion Syndrome	–	99.09	27 of 27
*JUP*	Arrhythmogenic Right Ventricular Dysplasia, Naxos Disease, Acantholytic Epidermolysis Bullosa	AD,AR	100	56 of 56
*KANSL1*	Koolen-De Vries Syndrome	AD	96.03	22 of 27
*KAT6A*	Arboleda-Tham Syndrome, Intellectual Disability, Craniofacial Anomalies, Cardiac Defects Syndrome	AD	99.89	66 of 68
*KAT6B*	Genitopatellar Syndrome, Ohdo Syndrome, Blepharophimosis- Intellectual Disability Syndrome	AD	99.97	80 of 80
*KATNIP*	Joubert Syndrome	AR	99.97	7 of 7
*KCNA1*	Episodic Ataxia, Epileptic Encephalopathy, Continuous Muscle Fiber Activity, Dyskinesia	AD	100	49 of 49
*KCNH1*	Temple-Baraitser Syndrome, Zimmermann-Laband Syndrome	AD	99.69	15 of 15
*KCNJ2*	Andersen Cardiodysrhythmic Paralysis, Atrial Fibrillation, Short Qt Syndrome	AD	100	93 of 93
*KCNK9*	Birk-Barel Syndrome, Intellectual Disability	AD	100	3 of 3
*KCNN3*	Zimmermann- Laband Syndrome	AD	100	5 of 5
*KDM1A*	Cleft Palate, Developmental Delay	AD	98.18	16 of 16
*KDM6A*	Kabuki Syndrome	AD,X,XD,G	99.98	–
*KIAA0586*	Joubert Syndrome, Short-Rib Thoracic Dysplasia, Polydactyly	AR	99.84	31 of 32
*KIAA0753*	Orofaciodigital Syndrome	AR	97.73	7 of 7
*KIF14*	Meckel Syndrome, Microcephaly	AR	99.84	18 of 18
*KIF7*	Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly, Epiphyseal Dysplasia, Orofaciodigital Syndrome	AR	94.91	47 of 50
*KIFBP*	Goldberg-Shprintzen Syndrome	AR	99.27	–
*KISS1*	Hypogonadotropic Hypogonadism	AR	100	9 of 10
*KISS1R*	Hypogonadotropic Hypogonadism, Precocious Puberty, Kallmann Syndrome	AD,AR	99.41	42 of 43
*KLF4*	Skin Squamous Cell Carcinoma, Epilepsy Cerebral Cavernous Malformations	–	99.91	5 of 5
*KLHL41*	Nemaline Myopathy	AR	99.92	8 of 8
*KLHL7*	Crisponi/Cold-Induced Sweating Syndrome, Retinitis Pigmentosa, Bohring-Opitz Syndrome	AD,AR	98.69	19 of 19
*KMT2A*	Facial Dysmorphism, Developmental Delay, Cornelia De Lange, Wiedemann-Steiner Syndrome	AD	98.14	144 of 149
*KMT2C*	Kleefstra Syndrome	AD	98.76	55 of 59
*KMT2D*	Kabuki Syndrome	AD	99.71	839 of 847
*KRAS*	Aplasia Cutis Congenita, Arteriovenous Malformation Of The Brain, Cardiofaciocutaneous Syndrome, Leukemia, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning- Feuerstein-Mims Syndrome, Encephalo- craniocutaneous Lipomatosis, Nevus Sebaceus Syndrome, Lynch Syndrome, Toriello- Lacassie-Droste Syndrome	AD	100	38 of 38
*LARGE1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	100	–
*LARS2*	Hydrops Fetalis, Lactic Acidosis, Sideroblastic Anemia, Perrault Syndrome	AR	99.99	20 of 20
*LBR*	Pelger-Huet Anomaly, Reynolds Syndrome, Greenberg Dysplasia	AD,AR	99.98	34 of 34
*LETM1*	Wolf-Hirschhorn Syndrome	AD	98.2	2 of 2
*LFNG*	Spondylocostal Dysostosis	AR	84.38	9 of 11
*LHX4*	Pituitary Hormone Deficiency, Hypothyroidism, Pituitary Stalk Interruption Syndrome	AD	99.95	21 of 22
*LHX8*	Cleft Palate, Multiple Lipoma Types	–	100	2 of 2
*LIG4*	Lig4 Syndrome, Multiple Myeloma, Dubowitz Syndrome, Lig4 Syndrome, Omenn Syndrome	AR	99.48	46 of 46
*LMNA*	Cardiomyopathy, Charcot-Marie- Tooth Disease, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson-Gilford Progeria Syndrome, Malouf Syndrome, Mandibuloacral Dysplasia, Dermopathy, Werner Syndrome, Lipodystrophic Laminopathy, Hypergonadotropic Hypogonadism	AD,AR	100	619 of 620
*LMX1B*	9q33.3q34.11 Microdeletion Syndrome, Nail- Patella Syndrome	AD	100	191 of 191
*LOXL3*	Stickler Syndrome	–	99.97	7 of 7
*LRP8*	Myocardial Infarction, Lissencephaly, Cerebellar Hypoplasia	–	99.41	2 of 2
*MAD2L2*	Fanconi Anemia	AR	99.91	1 of 1
*MAF*	Ayme-Gripp Syndrome, Cataract	AD	75.14	23 of 23
*MAFB*	Duane Retraction Syndrome, Deafness, Osteolysis, Nephropathy	AD	98.63	24 of 24
*MAP2K1*	Cardiofaciocutaneous Syndrome, Melorheostosis, Noonan Syndrome	AD	100	31 of 31
*MAP2K2*	Cardiofaciocutaneous Syndrome, Neurofibromatosis, Noonan Syndrome	AD	100	37 of 37
*MAP3K7*	Cardiospondylo- carpofacial Syndrome, Frontometaphyseal Dysplasia	AD	99.96	13 of 13
*MAPK1*	22q11.2 Microdeletion Syndrome	–	96.91	1 of 1
*MAPRE2*	Skin Creases	AD	99.98	5 of 5
*MASP1*	3mc Syndrome	AR	100	29 of 30
*MBTPS2*	Ichthyosis Follicularis, Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Palmoplantar Keratoderma, Bresek Syndrome	X,XR,G	100	–
*MCTP2*	Monosomy 15q	–	99.95	6 of 6
*MED12*	Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz- Kaveggia Syndrome, Blepharophimosis, Intellectual Disability, Fg Syndrome	X,XR,G	100	–
*MED25*	Basel-Vanagaite-Smirin- Yosef Syndrome, Charcot-Marie-Tooth Disease, Intellectual Disability, Cataract, Microcephaly, Nevus Flammeus Simplex	AR	100	5 of 5
*MEGF10*	Myopathy, Respiratory Distress, Dysphagia	AR	99.96	20 of 21
*MEIS2*	Cleft Palate, And Mental Retardation, 15q14 Microdeletion Syndrome	AD	92	18 of 20
*MEOX1*	Klippel-Feil Syndrome	AR	99.52	4 of 4
*MESP2*	Spondylocostal Dysostosis	AR	99.69	6 of 6
*MIB1*	Left Ventricular Noncompaction	AD	99.98	31 of 31
*MID1*	Opitz Syndrome	X,XR,G	99.95	–
*MIR140*	Spondyloepiphyseal Dysplasia	AD	–	–
*MKKS*	Bardet-Biedl Syndrome, Mckusick-Kaufman Syndrome	AR	89.96	71 of 71
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MN1*	Cebalid Syndrome, Meningioma	AD	99.52	3 of 3
*MSX1*	Tooth Agenesis, Witkop Syndrome, Cleft Lip/Palate, Hypodontia, Dysplasia Of Nails Syndrome, Oligodontia	AD	99.54	50 of 51
*MSX2*	Craniosynostosis, Parietal Foramina, Cleidocranial Dysplasia	AD	99.98	15 of 15
*MTHFR*	Homocystinuria, Neural Tube Defects, Schizophrenia, Thrombophiliavenous Thromboembolism, Anencephaly, Exencephaly	AD,AR	100	122 of 122
*MUSK*	Akinesia Deformation Sequence, Myasthenic Syndrome	AR	95.58	23 of 25
*MYH3*	Arthrogryposis, Contractures, Spondylocarpostarsal Fusion Syndrome, Multiple Pterygium Syndrome, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Sheldon- Hall Syndrome	AD,AR	100	46 of 47
*MYMK*	Carey-Fineman-Ziter Syndrome	AR	100	–
*MYOD1*	Myopathy, Diaphragmatic Defects, Respiratory Insufficiency, Dysmorphic Facies, Skinesia Deformation Sequence	AR	99.97	6 of 6
*NAA10*	Microphthalmia, Ogden Syndrome	X,XR,XD,G	99.86	–
*NBAS*	Liver Failure Syndrome, Short Stature, Optic Nerve Atrophy, Pelger-Huet Anomaly	AR	99.98	60 of 61
*NBN*	Aplastic Anemia, Leukemia, Nijmegen Breakage Syndrome, Breast And Ovarian Cancer	AR,MU,P	100	200 of 200
*NDNF*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD	99.33	–
*NEB*	Nemaline Myopathy	AR	86.77	304 of 339
*NECTIN1*	Cleft Lip/Palate, Ectodermal Dysplasia	AR	100	–
*NEDD4L*	Periventricular Nodular Heterotopia	AD	97.61	10 of 10
*NEK1*	Amyotrophic Lateral Sclerosis, Short Rib-Polydactyly Syndrome, Orofaciodigital Syndrome	AD,AR,MU,D	99.83	73 of 74
*NELFA*	Wolf-Hirschhorn Syndrome	–	99.93	–
*NEUROD2*	Epileptic Encephalopathy	AD	96.88	2 of 2
*NFASC*	Neurodevelopmental Disorder, Motor Dysfunction	AR	100	12 of 12
*NFIX*	Marshall-Smith Syndrome, Sotos Syndrome, 19p13.3 Microduplication Syndrome, Malan Overgrowth Syndrome	AD	94.42	75 of 81
*NID1*	Isolated Dandy- Walker Malformation	–	100	4 of 4
*NIPBL*	Cornelia De Lange Syndrome	AD	99.32	409 of 426
*NODAL*	Heterotaxy, Holoprosencephaly	AD	100	18 of 18
*NOTCH2*	Acroosteolysis, Osteoporosis, Alagille Syndrome	AD	99.88	91 of 91
*NPHP1*	Joubert Syndrome, Nephronophthisis, Senior-Loken Syndrome, Bardet- Biedl Syndrome	AR	100	58 of 59
*NSD2*	Wolf-Hirschhorn Syndrome	AD	99.91	–
*NSDHL*	Ck Syndrome, Congenital Hemidysplasia, Ichthyosiform Erythroderma	X,XR,XD,G	100	–
*NSMF*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD	99.69	11 of 11
*NSUN2*	Mental Retardation, Dubowitz Syndrome	AR	99.99	8 of 8
*NTN1*	Mirror Movements	AD	96.78	5 of 5
*NUDT6*	Gingival Overgrowth, Prostatic Adenoma, Desmoid Disease, Cardiac Valvular Dysplasia	–	99.87	1 of 1
*NUP107*	Galloway-Mowat Syndrome, Nephrotic Syndrome, Ovarian Dysgenesis, Gonadal Dysgenesis	AR	99.91	15 of 15
*NUP88*	Akinesia Deformation Sequence	AR	95.82	3 of 3
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson- Golabi-Behmel Syndrome, Orofaciodigital Syndrome, Primary Ciliary Dyskinesia	X,XR,XD,G	98.09	–
*ORC1*	Ear-Patella-Short Stature Syndrome	AR	100	12 of 12
*ORC4*	Meier-Gorlin Syndrome, Ear-Patella-Short Stature Syndrome	AR	100	4 of 4
*ORC6*	Meier-Gorlin Syndrome	AR	100	6 of 6
*OTX2*	Microphthalmia, Retinal Dystrophy, Pituitary Dysfunction, Agnathia- Holoprosencephaly, Situs Inversus Syndrome, Septo-Optic Dysplasia Spectrum	AD	100	56 of 58
*PALB2*	Fanconi Anemia, Familial Pancreatic Carcinoma, Breast And Ovarian Cancer	AD,AR	98.78	601 of 617
*PAX3*	Craniofacial- Deafness-Hand Syndrome, Rhabdomyosarcoma, Waardenburg Syndrome	AD,AR	99.98	157 of 157
*PAX7*	Myopathy, Scoliosis, Rhabdomyosarcoma	AR	100	17 of 17
*PAX9*	Tooth Agenesis, Selective, 3; Sthag3, Oligodontia	AD	100	53 of 55
*PDE6D*	Joubert Syndrome, Orofaciodigital Syndrome	AR	100	2 of 2
*PDGFC*	Milker’s Nodule, Macular Degeneration, Medulloblastoma, Cleft Lip/Palate, Dermatitis	–	99.4	–
*PDGFRA*	Gastrointestinal Stromal Tumor, Gist-Plus Syndrome , Hypereosinophilic Syndrome	AD	100	24 of 24
*PEX2*	Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	99.89	17 of 17
*PEX5*	Adrenoleukodystrophy, Cerebrohepatorenal Syndrome, Rhizomelic Chondrodysplasia Punctata, Refsum Disease, Zellweger Syndrome	AR	100	12 of 12
*PEX7*	Peroxisome Biogenesis Disorder, Refsum Disease, Rhizomelic Chondrodysplasia Punctata	AR	99.21	47 of 53
*PGAP2*	Hyperphosphatasia, Mental Retardation	AR	99.99	11 of 11
*PGAP3*	Hyperphosphatasia, Mental Retardation	AR	97	19 of 20
*PGM1*	Congenital Disorder Of Glycosylation	AR	99.96	38 of 40
*PHF8*	Intellectual Disability	X,XR,G	100	–
*PHGDH*	Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency	AR	100	26 of 26
*PHYH*	Refsum Disease	AR	100	34 of 34
*PIBF1*	Joubert Syndrome	AR	99.83	7 of 7
*PIEZO2*	Arthrogryposis, Gordon Syndrome, Marden-Walker Syndrome	AD,AR	96.93	37 of 37
*PIGA*	Multiple Congenital Anomalies, Hypotonia, Seizures, Paroxysmal Nocturnal Hemoglobinuria, West Syndrome	X,XR,G	97.98	–
*PIGL*	Zunich Neuroectodermal Syndrome, Chime Syndrome, Hyperphosphatasia, Intellectual Disability	AR	86	11 of 13
*PIGN*	Hypotonia , Seizures, Fryns Syndrome	AR	93.97	36 of 39
*PIGO*	Hyperphosphatasia, Mental Retardation	AR	99.93	21 of 21
*PIGP*	Epileptic Encephalopathy	AR	99.98	2 of 2
*PIGQ*	Epileptic Encephalopathy	AR	99.99	4 of 4
*PIGV*	Hyperphosphatasia, Mental Retardation	AR	99.99	16 of 16
*PIGW*	Hyperphosphatasia, Mental Retardation	AR	99.52	6 of 6
*PIGY*	Hyperphosphatasia, Mental Retardation	AR	100	1 of 2
*PLCB4*	Auriculocondylar Syndrome	AD,AR	100	16 of 17
*PLEKHA5*	Cleft Lip/Palate, Blepharocheilodontic Syndrome	–	99.84	6 of 6
*PLEKHA7*	Renal Adenoma, Blepharocheilodontic Syndrome, Marshall Syndrome, Cleft Lip/Palate	–	100	7 of 7
*PLXND1*	Moebius Syndrome	–	98.44	6 of 6
*PNKP*	Ataxia, Oculomotor Apraxia, Charcot- Marie-Tooth Disease, Epileptic Encephalopathy, Ataxia, Oculomotor Apraxia	AR	100	36 of 36
*POLA1*	Pigmentary Disorder, Systemic Manifestations, Van Esch-O’driscoll Syndrome, Intellectual Disability	X,XR,G	99.26	–
*POLR1A*	Acrofacial Dysostosis, Choanal Atresia, Hearing Loss, Cardiac Defects, Craniofacial Dysmorphism	AD	99.8	6 of 6
*POLR1B*	Treacher-Collins Syndrome	AD	99.89	–
*POLR1C*	Leukodystrophy, Mandibulofacial Dysostosis, Hypogonadotropic Hypogonadism, Treacher-Collins Syndrome	AR	99.99	35 of 35
*POLR1D*	Treacher Collins Syndrome	AD,AR	100	23 of 23
*POLR2A*	Neurodevelopmental Disorder, Hypotonia, Intellectual And Behavioral Abnormalities,	AD	100	17 of 17
*POLR3A*	Leukodystrophy, Oligodontia, Hypogonadotropic Hypogonadism, Progeroid Syndrome, Wiedemann- Rautenstrauch Syndrome	AR	100	122 of 122
*POMGNT1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Retinitis Pigmentosa, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.91	82 of 83
*POMGNT2*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	100	10 of 10
*POMK*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	99.99	8 of 8
*POMT1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	100	105 of 105
*POMT2*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	100	74 of 74
*PORCN*	Dermal Hypoplasia	X,XD,G	100	–
*POU1F1*	Pituitary Hormone Deficiency, Hypothyroidism	AD,AR	100	43 of 44
*PPP1R21*	Fissured Tongue	–	100	7 of 7
*PPP2R5D*	Mental Retardation, Macrocephaly, Hypotonia, Behavioral Abnormalities	AD	100	11 of 11
*PPP3CA*	Arthrogryposis , Cleft Palate, Craniosynostosis, Intellectual Development, Epileptic Encephalopathy	AD	99.98	16 of 16
*PQBP1*	Renpenning Syndrome, Hamel Cerebro-Palato- Cardiac Syndrome, Intellectual Disability	X,XR,G	99.99	–
*PRDM5*	Brittle Cornea Syndrome	AR	99.86	13 of 13
*PREPL*	Myasthenic Syndrome, 2p21 Microdeletion Syndrome, Hypotonia- Cystinuria Syndrome	AR	99.92	7 of 12
*PRICKLE1*	Epilepsy, Unverricht- Lundborg Disease	AR	98.41	23 of 23
*PROK2*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD	100	20 of 20
*PROKR2*	Hypogonadotropic Hypogonadism Kallmann Syndrome, Pituitary Stalk Interruption Syndrome, Septo- Optic Dysplasia Spectrum	AD	100	64 of 64
*PROP1*	Pituitary Dwarfism, Pituitary Hormone Deficiencies, Hypothyroidism, Panhypopituitarism	AR	100	35 of 36
*PRRX1*	Agnathia- Holoprosencephaly- Situs Inversus Syndrome	AD,AR	100	11 of 11
*PSAT1*	Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency	AR	99.95	9 of 9
*PTCH1*	Basal Cell Carcinoma, Basal Cell Nevus Syndrome, Holoprosencephaly, Gorlin Syndrome, Monosomy 9q22.3	AD	98.89	498 of 502
*PTCH2*	Basal Cell Nevus Syndrome, Medulloblastoma, Gorlin Syndrome	AD,AR	99.98	11 of 11
*PTDSS1*	Lenz-Majewski Hyperostotic Dwarfism	AD	100	7 of 7
*PTHLH*	Brachydactyly	AD	100	12 of 12
*PTPN11*	Myelomonocytic Leukemia, Leopard Syndrome, Metachondromatosis, Noonan Syndrome	AD	100	150 of 151
*PTPRS*	Nk-Cell Enteropathy, Pituitary Hypoplasia, Pineal Region Meningioma	–	99.14	6 of 6
*RAD21*	Cornelia De Lange, Mungan Syndrome	AD,AR	99.8	16 of 17
*RAD51*	Fanconi Anemia, Mirror Movements, Breast And Ovarian Cancer	AD	99.98	16 of 16
*RAD51C*	Breast And Ovarian Cancer, Fanconi Anemia	AR	100	130 of 130
*RAI1*	17p11.2 Microduplication Syndrome, Smith- Magenis Syndrome	AD	99.91	50 of 53
*RAPSN*	Akinesia Deformation Sequence, Myasthenic Syndrome	AR	99.98	59 of 61
*RB1*	Bladder Cancer, Osteosarcoma, Retinoblastoma, Small Cell Cancer Of The Lung, Monosomy 13q14,	AD	99.41	941 of 995
*RBM10*	Tarp Syndrome	X,XR,G	100	–
*RBM8A*	Thrombocytopenia- Absent Radius Syndrome	AR	100	4 of 4
*RECQL4*	Baller-Gerold Syndrome, Rapadilino Syndrome, Rothmund-Thomson Syndrome	AR	96.72	134 of 135
*RERE*	Neurodevelopmental Disorder, 1p36 Deletion Syndrome	AD	92.43	21 of 21
*RET*	Multiple Endocrine Neoplasia, Thyroid Carcinoma, Haddad Syndrome, Pheochromocytoma, Paraganglioma, Hirschsprung Disease, Renal Agenesis	AD	100	453 of 454
*REV3L*	Moebius Syndrome	–	99.08	7 of 7
*RFWD3*	Fanconi Anemia	AR	99.99	2 of 2
*RIC1*	Catifa Syndrome	AR	99.9	–
*RIMS3*	Autism, Heimler Syndrome	–	100	2 of 2
*RIPK4*	Popliteal Pterygium Syndrome, Bartsocas- Papas Syndrome, Chand Syndrome	AR	99.98	16 of 16
*RIPPLY2*	Spondylocostal Dysostosis	AR	99.89	3 of 3
*RNU4ATAC*	Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism, Roifman Syndrome	AR	–	–
*RPGRIP1*	Cone-Rod Dystrophy, Amaurosis, Meckel Syndrome	AR	99.33	146 of 159
*RPGRIP1L*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome,	AR	99.96	52 of 52
*RPL11*	Blackfan-Diamond Anemia	AD	100	52 of 52
*RPL15*	Blackfan-Diamond Anemia	AD	99.74	8 of 9
*RPL18*	Blackfan-Diamond Anemia	AD	100	1 of 1
*RPL26*	Blackfan-Diamond Anemia	AD	92.97	1 of 1
*RPL27*	Blackfan-Diamond Anemia	AD	100	2 of 2
*RPL31*	Blackfan-Diamond Anemia	–	100	0 of 1
*RPL35*	Blackfan-Diamond Anemia	AD	100	1 of 1
*RPL35A*	Blackfan-Diamond Anemia	AD	100	12 of 12
*RPL5*	Blackfan-Diamond Anemia	AD	100	95 of 95
*RPS10*	Blackfan-Diamond Anemia	AD	100	7 of 7
*RPS15A*	Blackfan-Diamond Anemia	AD	98.74	1 of 1
*RPS17*	Blackfan-Diamond Anemia	AD	0	0 of 7
*RPS19*	Blackfan-Diamond Anemia	AD	78	159 of 165
*RPS23*	Macinnes Syndrome	AD	99.99	2 of 2
*RPS24*	Blackfan-Diamond Anemia	AD	90.17	11 of 14
*RPS26*	Blackfan-Diamond Anemia	AD	100	28 of 29
*RPS27*	Blackfan-Diamond Anemia	AD	99.85	1 of 1
*RPS28*	Diamond-Blackfan Anemia, Mandibulofacial Dysostosis, Blackfan- Diamond Anemia	AD	100	1 of 1
*RPS29*	Blackfan-Diamond Anemia	AD	100	4 of 4
*RPS7*	Blackfan-Diamond Anemia	AD	100	7 of 10
*RREB1*	22q11.2 Deletion Syndrome	–	99.92	8 of 8
*RSPO2*	Humerofemoral Hypoplasia, Radiotibial Ray Deficiency, Tetraamelia Syndrome	AR	99.67	–
*RUNX2*	Cleidocranial Dysplasia, Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly, Cleidocranial Dysplasia	AD	73.67	189 of 190
*RXYLT1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	99.46	–
*RYK*	Mieloid Leukemia, Exudative Vitreoretinopathy, Robinow Syndrome , Norrie Disease	–	90.27	1 of 1
*RYR1*	Central Core Disease Of Muscle, Malignant Hyperthermia, Minicore Myopathy, Ophthalmoplegia	AD,AR	97.63	733 of 746
*SALL4*	Duane-Radial Ray Syndrome, Ivic Syndrome, Acro- Renal-Ocular Syndrome	AD	100	54 of 54
*SATB2*	2q32-Q33 Deletion Syndrome	AD	99.87	97 of 124
*SCARF2*	Van Den Ende- Gupta Syndrome	AR	93.06	13 of 13
*SCN1B*	Atrial Fibrillation, Brugada Syndrome, Epileptic Encephalopathy, Dravet Syndrome, Cardiac Conduction Defect	AD,AR	99.67	46 of 48
*SCN2A*	Epileptic Encephalopathy, Episodic Ataxia, Seizures, Dravet Syndrome, West Syndrome	AD	100	351 of 351
*SEC23A*	Craniolenticulosutural Dysplasia	AR	100	4 of 4
*SEC24C*	22q11.2 Deletion Syndrome	–	99.98	–
*SELENOI*	Spastic Paraplegia, Kennedy Pathway Dysfunction	AR	99.86	–
*SEMA3A*	Hypogonadotropic Hypogonadism, Brugada Syndrome, Kallmann Syndrome	AD	100	29 of 29
*SEMA3E*	Charge Syndrome, Hypogonadotropic Hypogonadismia	AD,AR	99.81	6 of 7
*SEPTIN9*	Amyotrophy, Neuralgic Amyotrophy	AD	86.94	4 of 4
*SETD5*	Mental Retardation, Cornelia De Lange, Intellectual Disability, Facial Dysmorphism,	AD	99.77	37 of 37
*SF3B4*	Nager Synd, Acrofacial Dysostosis	AD	94.86	33 of 40
*SH2B1*	16p11.2 Microdeletion Syndrome, Obesity, Insulin Resistance	–	99.98	25 of 25
*SHH*	Holoprosencephaly , Microphthalmia, Schizencephaly, Polydactyly, Radial Hemimelia, Syndactyly	AD	99.48	161 of 184
*SIK1*	Epileptic Encephalopathy, West Syndrome	AD	99.67	9 of 9
*SIX1*	Branchiootic Syndrome, Branchiootorenal Syndrome, Deafness, Bor Syndrome	AD	73	20 of 20
*SIX3*	Holoprosencephaly, Schizencephaly	AD	99.79	79 of 80
*SIX5*	Branchiootorenal Syndrome, Bor Syndrome	AD	93.16	11 of 11
*SKI*	1p36 Deletion Syndrome, Shprintzen-Goldberg Syndrome	AD	99.66	39 of 39
*SLC10A7*	Short Stature	AR	99.99	8 of 8
*SLC18A3*	Myasthenic Syndrome, Kinesia Deformation Sequence	AR	99.97	5 of 5
*SLC25A19*	Microcephaly, Thiamine Metabolism Dysfunction Syndrome	AR	97.13	10 of 10
*SLC25A22*	Epileptic Encephalopathy	AR	100	16 of 16
*SLC26A2*	Achondrogenesis , Atelosteogenesis, Diastrophic Dysplasia, Epiphyseal Dysplasia, Diastrophic Dwarfism	AR	99.59	51 of 56
*SLC29A3*	Histiocytosis- Lymphadenopathy Plus Syndrome, Dysosteosclerosis, H Syndrome	AR	100	32 of 32
*SLC2A10*	Arterial Tortuosity Syndrome	AR	100	35 of 35
*SLC35D1*	Schneckenbecken Dysplasia	AR	99.98	7 of 8
*SLC39A13*	Ehlers-Danlos Syndrome	AR	100	9 of 9
*SLX4*	Fanconi Anemia	AR	99.92	76 of 76
*SMAD2*	Osteopoikilosis, Buschke-Ollendorff Syndrome, Hypertrophic Scars, Clear Cell Adenocarcinoma, Melorheostosis	–	100	19 of 19
*SMAD3*	Loeys-Dietz Syndrome, Aneurysm-Osteoarthritis Syndrome	AD	100	128 of 128
*SMAD4*	Polyposis Syndrome, Myhre Syndrome, Pancreatic Cancer, Thoracic Aortic Aneurysm And Aortic Dissection, Hemorrhagic Telangiectasia	AD	99.56	136 of 136
*SMARCA4*	Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome	AD	100	68 of 69
*SMARCB1*	Coffin-Siris Syndrome, Rhabdoid Tumor Predisposition Syndrome, Schwannomatosis, Meningioma	AD	100	97 of 99
*SMARCC2*	Coffin-Siris Syndrome	AD	99.49	16 of 16
*SMARCD1*	Coffin-Siris Syndrome	AD	93.17	7 of 7
*SMARCE1*	Coffin-Siris Syndrome, Meningioma	AD	98.98	15 of 15
*SMC1A*	Cornelia De Lange, Holoprosencephaly, Wiedemann-Steiner Syndrome	X,XR,XD,G	100	–
*SMC3*	Cornelia De Lange Syndrome	AD	100	30 of 30
*SMCHD1*	Bosma Arhinia Microphthalmia Syndrome, Facioscapulohumeral Muscular Dystrophy, Hyposmia, Nasal And Ocular Hypoplasia, Hypogonadotropic Hypogonadism	AD,MU,D	99.64	131 of 137
*SMG1*	Myoclonus Epilepsy, Limb Girdle Muscular Distrophy, Sechel Syndrome	–	98.02	1 of 1
*SMG9*	Heart And Brain Malformation Syndrome	AR	100	4 of 4
*SMO*	Basal Cell Carcinoma, Craniofacial Malformations, Polysyndactyly, Abnormal Skin, Gut Development, Hypothalamic Hamartoma Syndrome, Curry-Jones Syndrome, Meningioma	AR	94.03	10 of 10
*SMOC1*	Microphthalmia, Limb Anomalies	AR	100	19 of 19
*SMPD4*	Neurodevelopmental Disorder, Microcephaly, Arthrogryposis	AR	99.98	15 of 15
*SMS*	Mental Retardation	X,XR,G	84.04	–
*SNAP29*	Cerebral Dysgenesis, Neuropathy, Ichthyosis, Palmoplantar Keratoderma, Cednik Syndrome	AR	100	13 of 13
*SNRPB*	Cerebrocostomandibular Syndrome	AD	98.97	–
*SNTG1*	Idiopahic Scoliosis, Basal Ganglia Calcification	–	100	1 of 2
*SON*	Zttk Syndrome, Brain Malformations, Musculoskeletal Abnormalities , Facial Dysmorphism, Intellectual Disability	AD	99.27	30 of 32
*SOX10*	Peripheral Demyelinating Neuropathy, Waardenburg Syndrome, Kallmann Syndrome, Central Dysmyelinating Leukodystrophy, Hirschsprung Disease	AD	99.74	139 of 147
*SOX11*	Mental Retardation, Coffin-Siris Syndrome	AD	95.23	11 of 11
*SOX2*	Microphthalmia, Anophthalmia, Esophageal Atresia Syndrome, Septo- Optic Dysplasia Spectrum	AD	99.91	78 of 78
*SOX3*	Mental Retardation, Growth Hormone Deficiency, Panhypopituitarism, Testicular Disorder Of Sex Development, Septo-Optic Dysplasia Spectrum	X,G	92.88	–
*SOX4*	Coffin-Siris Syndrome	AD	75.52	4 of 4
*SOX6*	Tolchin-Le Caignec Syndrome	AD	99.98	2 of 2
*SOX9*	Campomelic Dysplasia, Ovotesticular Disorder Of Sex Development, Gonadal Dysgenesis, Pierre Robin Syndrome	AD	97.28	87 of 95
*SP8*	Retinitis Pigmentosa, Bleeding Disorders	–	94.48	1 of 3
*SPECC1L*	Facial Clefting, Hypertelorism, Opitz Gbbb Syndrome	AD	99.66	14 of 14
*SPEG*	Myopathy	AR	99.26	17 of 17
*SPOP*	Nabais Sa-De Vries Syndrome	AD	100	1 of 1
*SPRY2*	Iga Nephropathy	AD	99.87	4 of 4
*SPRY4*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AD,AR	99.72	13 of 13
*STAC3*	Native American Myopathy	AR	99.98	5 of 5
*STAG2*	Holoprosencephaly, Neurodevelopmental Disorder, Craniofacial Abnormalities, Xq25 Microduplication Syndrome	X,XR,G	99.09	–
*STAMBP*	Microcephaly, Capillary Malformation Syndrome	AR	99.88	21 of 22
*STAT3*	Autoimmune Disease, Hyper-Ige Recurrent Infection Syndrome, Leukemia, Diabetes Mellitus	AD	100	171 of 171
*STXBP1*	Epileptic Encephalopathy, 9q33.3q34.11 Microdeletion Syndrome, Atypical Rett Syndrome, Dravet Syndrome, West Syndrome	AD	100	209 of 215
*SUFU*	Basal Cell Nevus Syndrome, Joubert Syndrome, Medulloblastoma, Meningioma, Acrocallosal Syndrome, Gorlin Syndrome, Holoprosencephaly	AD,AR	99.99	43 of 43
*SUMO1*	Orofacial Cleft, Oligodontia	–	99.77	–
*TAC3*	Hypogonadotropic Hypogonadism	AR	100	10 of 10
*TACR3*	Hypogonadotropic Hypogonadism, Kallmann Syndrome	AR	99.97	40 of 40
*TAPT1*	Osteochondrodysplasia	AR	89.49	3 of 3
*TBC1D24*	Deafness, Doors Syndrome, Epileptic Encephalopathy, Paroxysmal Exercise, Writer’s Cramp Syndrome	AD,AR	100	80 of 80
*TBCE*	Encephalopathy, Hypoparathyroidism, Dysmorphism, Kenny- Caffey Syndrome, Spastic Ataxia, Sanjad- Sakati Syndrome	AR	100	8 of 8
*TBR1*	Intellectual Developmental Disorder, Autism, Speech Delay, 2q24 Microdeletion Syndrome	AD	99.04	13 of 13
*TBX1*	Conotruncal Heart Malformations, Digeorge Syndrome, Tetralogy Of Fallot, Velocardiofacial Syndrome, 22q11.2 Deletion Syndrome, 22q11.2 Microduplication Syndrome	AD,AR	88.7	35 of 42
*TBX10*	Cleft Lip/Palate, Digeorge Syndrome, Immunodeficiency	–	100	1 of 1
*TBX15*	Pelviscapular Dysplasia	AR	100	3 of 3
*TBX2*	Vertebral Anomalies	AD	93.43	8 of 13
*TBX22*	Charge-Like Syndrome, Cleft Palate, Abruzzo- Erickson Syndrome	X,G	99.94	–
*TBX4*	Amelia, Ischiocoxopodopatellar Syndrome, 17q23.1q23.2 Microdeletion Syndrome, Coxopodopatellar Syndrome, Clubfoot	AD,AR	99.72	91 of 94
*TBX6*	Costovertebral Segmentation Anomalies, Spondylocostal Dysostosis	AD,AR	99.89	32 of 33
*TCOF1*	Treacher-Collins Syndrome	AD	100	326 of 327
*TCTN2*	Joubert Syndrome, Meckel Syndrome	AR	100	14 of 14
*TCTN3*	Joubert Syndrome, Orofaciodigital Syndrome	AR	99.99	13 of 13
*TDGF1*	Holoprosencephaly	–	100	3 of 3
*TELO2*	You-Hoover-Fong Syndrome, Intellectual Disability, Neurodevelopmental Disorder	AR	99.98	8 of 8
*TFAP2A*	Branchiooculofacial Syndrome	AD	98.61	37 of 37
*TGDS*	Catel-Manzke Syndrome	AR	99.99	7 of 7
*TGFB1*	Camurati-Engelmann Disease, Cystic Fibrosis, Inflammatory Bowel Disease , Immunodeficiency, Encephalopathy	AD,AR	99.75	24 of 24
*TGFB2*	Loeys-Dietz Syndrome, Aortic Aneurysm	AD	99.9	41 of 44
*TGFB3*	Arrhythmogenic Right Ventricular Dysplasia, Loeys-Dietz Syndrome, Aortic Aneurysm, Aortic Dissection	AD	100	34 of 35
*TGFBR1*	Loeys-Dietz Syndrome, Multiple Self-Healing Squamous Epithelioma, Aortic Aneurysm, Aortic Dissection	AD	94	96 of 100
*TGFBR2*	Colorectal Cancer, Esophageal Cancer, Loeys-Dietz Syndrome, Aortic Aneurysm, Aortic Dissection, Lynch Syndrome, Squamous Cell Carcinoma Of The Esophagus	AD	99.9	165 of 166
*TGIF1*	Holoprosencephaly	AD	99.94	23 of 23
*TMCO1*	Cerebrofaciothoracic Dysplasia	AR	88	5 of 5
*TMEM107*	Meckel Syndrome, Orofaciodigital Syndrome	AR	100	3 of 3
*TMEM216*	Joubert Syndrome, Meckel Syndrome, Orofaciodigital Syndrome	AR	98.74	8 of 8
*TMEM231*	Joubert Syndrome, Meckel Syndrome, Orofaciodigital Syndrome	AR	98.63	20 of 21
*TMEM237*	Joubert Syndrome	AR	100	11 of 11
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome	AR	96.93	177 of 179
*TP63*	Adult Syndrome, Ankyloblepharon, Ectodermal Defects, Cleft Lip/Palate, Ectrodactyly, Limb- Mammary Syndrome, Rapp-Hodgkin Syndrome, Split-Hand/Foot Malformation, Bladder Exstrophy, Eec Syndrome	AD	99.98	144 of 144
*TRAPPC9*	Mental Retardation	AR	100	17 of 18
*TRIM8*	Epileptic Encephalopathy	–	99.5	7 of 7
*TRIP13*	Mosaic Variegated Aneuploidy Syndrome, Nephroblastoma	AR	98.14	2 of 2
*TRPV4*	Necrosis Of Femoral Head, Brachyrachia, Digital Arthropathy, Hereditary Motor, Sensory Neuropathy , Metatropic Dysplasia, Parastremmatic Dwarfism, Spinal Muscular Atrophy, Spondyloepiphyseal Dysplasia	AD	100	88 of 88
*TRRAP*	Deafness, Developmental Delay, Autism	AD	99.98	46 of 46
*TSR2*	Blackfan-Diamond Anemia	X,XR,G	99.96	–
*TTC37*	Trichohepatoenteric Syndrome, Syndromic Diarrhea	AR	100	66 of 66
*TTN*	Cardiomyopathy, Limb Girdle Muscular Dystrophy, Myopathy	AD,AR	97.93	1153 of 1219
*TUBB*	Cortical Dysplasia, Skin Creases	AD	100	8 of 8
*TWIST1*	Craniosynostosis, Robinow-Sorauf Syndrome, Saethre- Chotzen Syndrome, Sweeney-Cox Syndrome, Brachycephaly, Plagiocephaly, Scaphocephaly	AD	74.06	133 of 161
*TXNL4A*	Burn-Mckeown Syndrome, Choanal Atresia, Hearing Loss, Cardiac Defects, Craniofacial Dysmorphism	AR	80.96	4 of 4
*TXNRD2*	Glucocorticoid Deficiency, Cardiomyopathy	AR	99.95	5 of 5
*UBB*	Bifid Uvula, Cleft Velum	–	100	1 of 1
*UBE2T*	Fanconi Anemia	AR	100	4 of 4
*UFD1*	22q11.2 Deletion Syndrome	–	99.98	–
*USP9X*	Mental Retardation, Facial Dysmorphism, Short Stature, Choanal Atresia	X,XR,XD,G	98.61	–
*VANGL2*	Neural Tube Defects, Anencephaly, Exencephaly	AD	99.98	12 of 12
*VAX1*	Microphthalmia	AR	88.33	2 of 4
*WASHC5*	Dandy-Walker Malformation, Spastic Paraplegia	AD,AR	99.99	–
*WDPCP*	Bardet-Biedl Syndrome, Heart Defects, Tongue Hamartomas, Polysyndactyly, Meckel Syndrome	AR	99.3	8 of 8
*WDR11*	Hypogonadotropic Hypogonadism, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome	AD,AR	100	19 of 19
*WDR26*	Skraban-Deardorff Syndrome, Intellectual Disability, Seizures, Abnormal Gait, Facial Dysmorphism	AD	99.31	22 of 22
*WDR35*	Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia, Polydactyly	AR	100	31 of 33
*WHCR*	Wolf-Hirschhorn Syndrome	AD	–	–
*WNT3*	Tetra-Amelia	AR	100	2 of 2
*WNT4*	Sex Reversal, Kidneys Dysgenesis, Mullerian Aplasia And Hyperandrogenism, Serkal Syndrome	AD,AR	100	8 of 8
*WNT5A*	Robinow Syndrome	AD	99.08	11 of 11
*WNT7A*	Fibular Aplasia, Hypoplasia, Oligodactyly, Phocomelia	AR	100	10 of 10
*XRCC2*	Fanconi Anemia, Male Infertility, Azoospermia, Oligozoospermia	AR	98.39	28 of 28
*XYLT1*	Pseudoxanthoma Elasticum, Desbuquois Syndrome	AR	92.61	19 of 23
*YAP1*	Coloboma, Hearing Impairment, Cleft Lip/Palate, Cleft Lip/Palate	AD	99.88	8 of 8
*YWHAE*	17p13.3 Microduplication Syndrome, Miller- Dieker Syndrome	–	98.99	0 of 1
*ZBTB24*	Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome, Icf Syndrome	AR	100	23 of 23
*ZC4H2*	Wieacker-Wolff Syndrome, Intellectual Disability, Developmental Delay	X,XR,XD,G	99.69	–
*ZEB2*	Mowat-Wilson Syndrome	AD	98.95	253 of 254
*ZIC2*	Holoprosencephaly	AD	84.47	86 of 112
*ZMPSTE24*	Mandibuloacral Dysplasia, Lipodystrophy, Restrictive Dermopathy, Hutchinson-Gilford Progeria Syndrome	AR	100	35 of 36
*ZNF469*	Brittle Cornea Syndrome	AR	99.91	79 of 79
*ZSWIM6*	Acromelic Frontonasal Dysostosis, Neurodevelopmental Disorder, Movement Abnormalities, Autism	AD	91.16	2 of 2

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

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Cleft Lip and Palate Precision Panel

Cleft Lip and Palate (CLP) are a group of malformations of unknown etiology with overlapping phenotypes affecting both females and males. They are the most common congenital malformations of the craniofacial region.

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