The clinical utility of this panel is:
| GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
| ANKLE2 | Autosomal Recessive Primary Microcephaly |
AR |
96.08 |
4 of 4 |
| ASPM | Autosomal Recessive Primary Microcephaly |
AR |
99.74 |
221 of 222 |
| CDK5RAP2 | Autosomal Recessive Primary Microcephaly |
AR |
100 |
32 of 32 |
| CDK6 | Autosomal Recessive Primary Microcephaly |
AR |
100 |
1 of 1 |
| CENPE | Autosomal Recessive Primary Microcephaly, Seckel Syndrome |
AR |
95.69 |
5 of 5 |
| CENPJ | Autosomal Recessive Primary Microcephaly, Seckel Syndrome |
AR |
99.97 |
13 of 13 |
| CEP135 | Autosomal Recessive Primary Microcephaly |
AR |
99.48 |
7 of 8 |
| CEP152 | Autosomal Recessive Primary Microcephaly, Seckel Syndrome |
AR |
97.73 |
21 of 24 |
| CEP63 | Autosomal Recessive Primary Microcephaly, Seckel Syndrome |
AR |
100 |
3 of 3 |
| CIT | Autosomal Recessive Primary Microcephaly |
AR |
99.98 |
17 of 17 |
| COPB2 | Autosomal Recessive Primary Microcephaly |
AR |
99.64 |
4 of 4 |
| DPP6 | Autosomal Dominant Primary Microcephaly, Paroxysmal Familial Ventricular Fibrillation, Autosomal Dominant Mental Retardation |
AD |
97.03 |
23 of 28 |
| KIF14 | Autosomal Recessive Primary Microcephaly, Meckel Syndrome |
AR |
99.84 |
18 of 18 |
| KNL1 | Autosomal Recessive Primary Microcephaly |
AR |
98.91 |
NA of NA |
| TRAPPC14 | Autosomal Recessive Primary Microcephaly |
AR |
na |
na |
| MCPH1 | Autosomal Recessive Primary Microcephaly |
AR |
99.51 |
18 of 19 |
| MFSD2A | Autosomal Recessive Primary Microcephaly |
AR |
97.58 |
6 of 6 |
| NCAPD2 | Autosomal Recessive Primary Microcephaly |
AR |
99.98 |
4 of 4 |
| NCAPD3 | Autosomal Recessive Primary Microcephaly |
AR |
99.97 |
4 of 5 |
| NCAPH | Autosomal Recessive Primary Microcephaly |
AR |
99.99 |
1 of 1 |
| NUP37 | Autosomal Recessive Primary Microcephaly |
AR |
100 |
3 of 3 |
| PHC1 | Autosomal Recessive Primary Microcephaly |
AR |
91.73 |
1 of 1 |
| PPP1R15B | Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
AR |
99.98 |
5 of 5 |
| PYCR2 | Autosomal Recessive Primary Microcephaly, Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
AR |
98.29 |
14 of 14 |
| SASS6 | Autosomal Recessive Primary Microcephaly |
AR |
99.14 |
6 of 6 |
| STIL | Autosomal Recessive Primary Microcephaly |
AR |
99.94 |
18 of 18 |
| TAF13 | Autosomal Recessive Primary Microcephaly |
AR |
99.97 |
5 of 5 |
| TRMT10A | Primary Microcephaly-Mild Intellectual Disability-Young- Onset Diabetes Syndrome |
AR |
99.81 |
7 of 7 |
| WDFY3 | Autosomal Dominant Primary Microcephaly, Non-Specific Syndromic Intellectual Disability |
AD |
99.95 |
60 of 60 |
| WDR62 | Autosomal Recessive Primary Microcephaly With Or Without Cortical Malformations |
AR |
100 |
60 of 61 |
| ZNF335 | Microcephalic Primordial Dwarfism Due To Znf335 Deficiency, Autosomal Recessive Primary Microcephaly |
AR |
99.83 |
20 of 20 |
* 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
Shaheen, R., Maddirevula, S., Ewida, N., Alsahli, S., Abdel-Salam, G., Zaki, M. S., Tala, S. A., Alhashem, A., Softah, A., Al-Owain, M., Alazami, A. M., Abadel, B., Patel, N., Al-Sheddi, T., Alomar, R., Alobeid, E., Ibrahim, N., Hashem, M., Abdulwahab, F., Hamad, M., … Alkuraya, F. S. (2019). Genomic and phenotypic delineation of congenital microcephaly. Genetics in medicine : official journal of the American College of Medical Genetics, 21(3), 545–552. https://doi.org/10.1038/s41436-018-0140-3
Vargas, J., Allred, E., Leviton, A., & Holmes, L. (2001). Congenital microcephaly: Phenotypic features in a consecutive sample of newborn infants. The Journal Of Pediatrics, 139(2), 210-214. doi: 10.1067/mpd.2001.115314
Ashwal, S., Michelson, D., Plawner, L., & Dobyns, W. (2009). Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 73(11), 887-897. doi: 10.1212/wnl.0b013e3181b783f7
Selected Birth Defects Data from Population-based Birth Defects Surveillance Programs in the United States, 2003-2007. (2010). Birth Defects Research Part A: Clinical And Molecular Teratology, 88(12), 1062-1174. doi: 10.1002/bdra.20760
Passemard, S., Kaindl, A. M., & Verloes, A. (2013). Microcephaly. Handbook of clinical neurology, 111, 129–141. https://doi.org/10.1016/B978-0-444-52891-9.00013-0
Mochida G. H. (2009). Genetics and biology of microcephaly and lissencephaly. Seminars in pediatric neurology, 16(3), 120–126. https://doi.org/10.1016/j.spen.2009.07.001
