Table 3 Variants displaying complex compound heterozygosity
Gene | Variant | Justification for CCH | Disease Name | Phenotype-specific OMIM ID |
|---|---|---|---|---|
POLR3A | NM_007055.4:c.1909+22 G > A | Homozygous in individuals who lack the phenotype | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 607694 |
ABCA4 | NM_000350.3:c.5882 G > A;p.(Gly1961Glu) | Homozygous in individuals who lack the phenotype | Stargardt disease 1 | 248200 |
SBDS | NM_016038.4:c.258+2 T > C | Homozygous in individuals who lack the phenotype | Shwachman-Diamond syndrome 1 | 260400 |
RBM8A | NM_005105.5:c.*6 C > G | Previously published CCH | Thrombocytopenia-absent radius syndrome | 274000 |
EYS | NM_001142800.1:c.2137+1 G > A | Homozygous in individuals who lack the phenotype | Retinitis pigmentosa 25 | 602772 |
DHCR7 | NM_001360.3:c.1 A > G;p.? | Homozygous in individuals who lack the phenotype | Smith-Lemli-Opitz syndrome | 270400 |
DONSON | NM_017613.4:c.82 A > C;p.(Ser28Arg) | Homozygous in individuals who lack the phenotype | Microcephaly, short stature, and limb abnormalities | 617604 |
CLCN7 | NM_001287.6:c.1208 G > A;p.(Arg403Gln) | Homozygous in individuals who lack the phenotype | Osteopetrosis, autosomal recessive 4 | 611490 |
