Table 2.
Novel autosomal recessive inheritance pattern in genes previously known with autosomal dominant or de novo inheritance
| Gene | Zygosity | Variant | Reported phenotype |
|---|---|---|---|
| COL4A1 | Homozygous | c.3832G>A; p.Gly1278Ser | Microangiopathy and leuko-encephalopathy, pontine, AD |
| POLR1A | Homozygous | c.4498C>T; p.Arg1500Cys | Acrofacial dysostosis, Cincinnati type, AD |
| TLK2 | Homozygous | c.163A>G; p.Lys55Glu | Mental retardation, AD, 57 |
| CACNA1S | Homozygous | c.2366G>A; p.Arg789His | Hypokalemic periodic paralysis, type 1, AD |
| ASH1L | Homozygous | c.7756G>A; p.Gly2591Ser | Mental retardation, AD, 52 |
| PRKCG | Homozygous | c.1769T>C; p.Leu590Pro | Spinocerebellar ataxia 14, AD |
| KMT2C | Homozygous | c.13174C T; p.Pro4392Ser | Kleefstra sy/Lissencephaly/Epilepsy temp lobe, AD |
| HMBS | Homozygous | c.500G>A; p.Arg167Gln | Porphyria, acute intermittent, AD |
| CACNB4 | Homozygous | c.8C>T; p.Ser3Phe | Episodic ataxia, type 5, AD Epilepsy juvenile myoclonic, AD |
| SCN2A | Homozygous | c.1976G>A; p.Gly659Asp | Epileptic encephalopathy, early infantile, 11, AD |
| TMEM240 | Homozygous | c.47C>A; p.Ser16Ter | Spinocerebellar ataxia 21, AD |
AD = autosomal dominant.