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| Genetic Epilepsy v0.1286 | THG1L | Zornitza Stark Marked gene: THG1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1286 | THG1L | Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1286 | THG1L | Zornitza Stark Phenotypes for gene: THG1L were changed from Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1285 | THG1L | Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1285 | THG1L | Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1276 | THG1L |
Krithika Murali gene: THG1L was added gene: THG1L was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THG1L were set to 33682303 Phenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy Review for gene: THG1L was set to AMBER Added comment: 3 individuals from 2 unrelated families of Ashkenazi Jewish descent with compound heterozygous variants ( p.Cys51Trp and p.Val55Ala) presented with profound developmental delays, microcephaly, intractable epilepsy, and cerebellar hypoplasia. Sources: Expert list, Literature |
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