Genomics Precision Diagnostic > Metabolic Precision Panel > Congenital Disorders of Glycosylation Precision Panel

Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity.

Overview

Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity. These phenotypically diverse disorders present as clinical syndromes affecting multiple systems including the central nervous system, muscle function, transport, regulation, immunity, endocrine system, and coagulation. Over 150 different CDGs have been and those affecting N-glycosylation are the most common type.
The Igenomix Congenital Disorders of Glycosylation Precision Panel can be used to make an accurate and directed diagnosis 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 Congenital Disorders of Glycosylation Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Low muscle tone or floppiness
- Failure to thrive
- Gross developmental delay
- Liver disease
- Abnormal bleeding or blood clotting
- Misaligned or crossed eyes
- Seizures
- Stroke-like episodes

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 treatment with a multidisciplinary team in the form of nutritional therapy, transplantation, activated sugars, gene therapy and pharmacological chaperones.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation given the clinical and genetically heterogenous profile of CDGs.

Genes & Diseases

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GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ALG1*	Congenital Disorder Of Glycosylation	AR	100	46 of 46
*ALG11*	Congenital Disorder Of Glycosylation	AR	99.91	19 of 19
*ALG12*	Congenital Disorder Of Glycosylation	AR	100	17 of 17
*ALG13*	Epileptic Encephalopathy, Intellectual Disability	X,XR,XD,G	99.62	–
*ALG14*	Myasthenic Syndrome With Glycosylation Defect	AR	99.99	7 of 7
*ALG2*	Congenital Disorder Of  Glycosylation, Myasthenic Syndrome	AR	99.61	7 of 7
*ALG3*	Congenital Disorder Of Glycosylation	AR	99.2	25 of 25
*ALG6*	Congenital Disorder Of  Glycosylation	AR	99.91	24 of 24
*ALG8*	Congenital Disorder Of  Glycosylation, Polycystic Liver Disease	AD,AR	99.5	22 of 22
*ALG9*	Congenital Disorder Of  Glycosylation, Polycystic Kidney Disease	AR	99.99	6 of 6
*ATP6AP2*	Congenital Disorder Of  Glycosylation, Mental Retardation, Parkinsonism With Spasticity	X,XR,G	100	–
*ATP6V0A2*	Cutis Laxa, Wrinkly Skin Syndrome, Congenital Disorder Of Glycosylation	AR	99.99	55 of 55
*ATP6V1A*	Cutis Laxa, Epileptic Encephalopathy	AD,AR	99.98	9 of 9
*ATP6V1E1*	Cutis Laxa, Congenital Disorder Of Glycosylation	AR	100	2 of 2
*B4GALT1*	Congenital Disorder Of Glycosylation	AR	99.97	3 of 3
*CAD*	Epileptic Encephalopathy	AR	100	12 of 12
*CCDC115*	Congenital Disorder Of Glycosylation	AR	100	4 of 4
*COG1*	Congenital Disorder Of Glycosylation	AR	99.91	3 of 3
*COG2*	Congenital Disorder Of Glycosylation	AR	96.97	4 of 4
*COG4*	Congenital Disorder Of Glycosylation, Saul-Wilson Syndrome	AD,AR	100	5 of 5
*COG5*	Congenital Disorder Of Glycosylation	AR	100	19 of 19
*COG6*	Congenital Disorder Of Glycosylation, Shaheen Syndrome, Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	AR	100	13 of 13
*COG7*	Congenital Disorder Of Glycosylation	AR	99.94	6 of 6
*COG8*	Congenital Disorder Of Glycosylation	AR	100	8 of 8
*CRPPA*	Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome	AR	97.69	–
*DAG1*	Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome	AR	99.98	9 of 9
*DDOST*	Congenital Disorder Of Glycosylation	AR	100	2 of 2
*DOLK*	Congenital Disorder Of Glycosylation, Dilated Cardiomyopathy	AR	99.98	13 of 13
*DPAGT1*	Congenital Disorder Of  Glycosylation, Myasthenic Syndrome	AR	100	41 of 41
*DPM1*	Congenital Disorder Of Glycosylation	AR	97.25	9 of 9
*DPM2*	Congenital Disorder Of Glycosylation, Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	AR	99.87	2 of 2
*DPM3*	Congenital Disorder Of Glycosylation, Lind-Girdle Muscular Dystrophy	AR	100	4 of 4
*FCSK*	Congenital Disorder Of Glycosylation	AR	97.99	–
*FKRP*	Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Cardiomyopathy, Lind-Girdle Muscular Dystrophy, Dilated Cardiomyopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	98	54 of 56
*FUT8*	Congenital Disorder Of Glycosylation	AR	99.73	4 of 4
*GALNT2*	Congenital Disorder Of Glycosylation	AR	99.7	7 of 7
*GFPT1*	Myasthenic Syndrome, Limb-Girdle Muscular Dystrophy	AR	100	57 of 57
*GMPPB*	Limb-Girdle Muscular Dystrophy, Myasthenic Syndrome, Muscle-Eye- Brain Disease	AR	99.95	53 of 53
*LARGE1*	Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome	AR	100	–
*MAGT1*	Congenital Disorder Of Glycosylation, Immunodeficiency, Neoplasia	X,XR,G	100	–
*MAN1B1*	Mental Retardation, Congenital Disorder Of Glycosylation	AR	99.97	29 of 30
*MGAT2*	Congenital Disorder Of Glycosylation	AR	97.19	5 of 5
*MOGS*	Congenital Disorder Of Glycosylation	AR	100	10 of 10
*MPDU1*	Congenital Disorder Of Glycosylation	AR	100	7 of 7
*MPI*	Congenital Disorder Of Glycosylation	AR	100	20 of 20
*NGLY1*	Congenital Disorder Of Glycosylation, Alacrimia-Choreoathetosis- Liver Dysfunction Syndrome	AR	99.8	28 of 28
*NUS1*	Congenital Disorder Of Glycosylation, Mental Retardation, Undetermined Early-Onset Epileptic Encephalopathy	AD,AR	99.62	22 of 23
*PGM1*	Congenital Disorder Of Glycosylation	AR	99.96	38 of 40
*PGM3*	Immunodeficiency	AR	99.99	17 of 17
*PIGG*	Mental Retardation, Wolf-Hirschhorn Syndorme	AR	99.86	6 of 6
*PIGL*	Zunich Neuroectodermal Syndrome, Chime Syndrome, Hyperphosphatasia– Intellectual Disability Syndrome	AR	86	11 of 13
*PIGN*	Fryns Syndrome, Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome	AR	93.97	36 of 39
*PIGT*	Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome, Hemoglobinuria	AD,AR	100	15 of 15
*PMM2*	Congenital Disorder Of Glycosylation	AR	100	127 of 129
*POMGNT1*	Limb-Girdle Muscular Dystrophy, Retinitis Pigmentosa, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome	AR	99.91	82 of 83
*POMK*	Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome	AR	99.99	8 of 8
*POMT1*	Limb-Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	100	105 of 105
*POMT2*	Limb-Girdle Muscular Dystrophy, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	100	74 of 74
*RFT1*	Congenital Disorder Of Glycosylation	AR	99.98	18 of 18
*SLC35A1*	Congenital Disorder Of Glycosylation	AR	100	6 of 6
*SLC35A2*	Congenital Disorder Of Glycosylation	X,XD,G	99.97	–
*SLC35C1*	Congenital Disorder Of Glycosylation	AR	99.73	8 of 8
*SLC39A8*	Congenital Disorder Of Glycosylation	AR	99.89	7 of 7
*SRD5A3*	Congenital Disorder Of Glycosylation, Kahrizi Syndrome	AR	100	15 of 15
*SSR4*	Congenital Disorder Of Glycosylation	X,XR,G	100	–
*STT3A*	Congenital Disorder Of Glycosylation	AR	99.95	4 of 4
*STT3B*	Congenital Disorder Of Glycosylation	AR	98.71	5 of 5
*TMEM165*	Congenital Disorder Of Glycosylation	AR	93.69	4 of 5
*TMEM199*	Congenital Disorder Of Glycosylation	AR	100	5 of 5

* 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

Methodology

References

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Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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