Table 4 The gene list and number of variants detected by CEBMPA.
Diseases | Genes | Number of variants |
|---|---|---|
Genetic deafness | GJB2 (NM_004004.5) | 23 |
SLC26A4 (NM_000441.1) | 60 | |
MT-RNR1 (NC_012920) | 2 | |
α-Thalassemia | HBA1/HBA2 | 5 |
HBA1 (NM_000558.3) | 3 | |
HBA2 (NM_000517.4) | 9 | |
β-Thalassemia | HBB (NM_000518.4) | 58 |
Duchenne muscular dystrophy | DMD (NM_004006.2) | 1 |
Hemophilia A | F8 (NM_000132.3) | 23 |
Fragile X syndrome | FMR1 (NM_002024.5) | 1 |
X-linked ichthyosis | STS (NM_000351.4) | 1 |
Spinal muscular atrophy | SMN1 (NM_000344.3) | 7 |
Phenylketonuria | PAH (NM_000277.1) | 96 |
Tetrahydrobiopterin deficiency | PTS (NM_000317.2) | 13 |
Methylmalonic acidemia | MMUT (NM_000255.3) | 25 |
Methylmalonic acidemia with homocystinuria Cb1C | MMACHC (NM_015506.2) | 19 |
Congenital adrenal hyperplasia | CYP21A2 (NM_000500.7) | 23 |
Hepatolenticular degeneration | ATP7B (NM_000053.3) | 70 |
Thrombocytopenia-absent radius syndrome | RBM8A (NM_005105) | 3 |
Hypotonia-cystinuria syndrome | SLC3A1 (NM_000341.3);PREPL (NM_006036.4) | 1 |
Xp11.22 microduplication syndrome | HUWE1 (NM_031407.6) | 1 |
Pelizaeus-Merzbacher disease | PLP1 (NM_000533.4) | 2 |
MECP2 duplication syndrome | MECP2 (NM_004992.3) | 1 |
Int22h1/Int22h2 mediated chromosome Xq28 duplication syndrome | Xq28 (154.896 Mb–155.335 Mb) | 1 |
