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| Genetic Epilepsy v0.2140 | TSPYL1 | Zornitza Stark Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2138 | TSPYL1 | Lilian Downie reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome MIM#608800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1275 | TSPYL1 | Zornitza Stark Marked gene: TSPYL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1275 | TSPYL1 | Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1275 | TSPYL1 | Zornitza Stark Classified gene: TSPYL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1275 | TSPYL1 | Zornitza Stark Gene: tspyl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1274 | TSPYL1 |
Krithika Murali gene: TSPYL1 was added gene: TSPYL1 was added to Genetic Epilepsy. Sources: Expert list,Literature Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPYL1 were set to 32885560; 15273283; 33075815 Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome - 608800; sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 Review for gene: TSPYL1 was set to GREEN Added comment: First identified in a large Amish family - lethal disease characterized by sudden infant death from cardiorespiratory arrest with dysgenesis of the testes (Puffenberger et al 2004). Cases in non-Amish families reported with additional phenotypic features noted including epilepsy (Slater et al 2020 and Buyse et al 2020) Sources: Expert list, Literature |
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