Table 2.
Top 20 Poorly Covered Genes with Clinical Relevance. Clinical relevance is defined as having at least five Pathogenic or Likely pathogenic variants in ClinVar reported in the gene by submitting laboratories or working groups.
| Gene | # Clinically Significant Variants | % Callable | Disease | Disease Prevalence |
|---|---|---|---|---|
| STRC | 8 | 20 | Sensorineural hearing loss | Common |
| ADAMTSL2 | 5 | 32 | Geleophysic dysplasia | Rare |
| CYP21A2 | 13 | 44 | Congenital adrenal hyperplasia | Common |
| ARX | 19 | 45 | X-linked infantile spasm syndrome | Rare |
| MECP2 | 250 | 53 | Rett syndrome | Common |
| GJB1 | 16 | 53 | Charcot-Marie-Tooth disease | Common |
| ABCD1 | 33 | 57 | X-linked adrenoleukodystrophy | Moderate |
| EMD | 11 | 57 | Emery-Dreifuss muscular dystrophy | Moderate |
| G6PD | 16 | 58 | Glucose-6-phosphate dehydrogenase deficiency | Common |
| GATA1 | 12 | 60 | Dyserythropoietic anemia and thrombocytopenia | Rare |
| AVPR2 | 15 | 62 | Nephrogenic diabetes insipidus | Rare |
| EDA | 37 | 63 | Hypohidrotic ectodermal dysplasia | Moderate |
| SLC16A2 | 11 | 63 | Allan-Herndon-Dudley syndrome | Rare |
| FLNA | 42 | 64 | Otopalatodigital syndrome | Rare |
| EBP | 24 | 64 | X-linked chondrodysplasia punctata | Rare |
| RPGR | 17 | 64 | Retinitis pigmentosa | Common |
| TAZ | 17 | 64 | Barth syndrome | Rare |
| IDS | 16 | 64 | Hunter syndrome | Moderate |
| FGD1 | 8 | 64 | Aarskog-Scott syndrome | Rare |
| GPR143 | 6 | 65 | Ocular albinism | Moderate |