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| Ataxia and cerebellar anomalies - narrow panel v2.179 | TSEN15 | Arina Puzriakova Tag watchlist tag was added to gene: TSEN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.179 | TSEN15 | Arina Puzriakova Classified gene: TSEN15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.179 | TSEN15 | Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber - PMID:27392077 report on 2 families with PCH and biallelic variants in this gene (brain MRI was not available in third family). Additional cases required prior to inclusion as diagnostic-grade (added watchlist tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.179 | TSEN15 | Arina Puzriakova Gene: tsen15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.178 | TSEN15 | Arina Puzriakova Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F 617026 to Pontocerebellar hypoplasia, type 2F, OMIM:617026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.177 | TSEN15 | Arina Puzriakova reviewed gene: TSEN15: Rating: ; Mode of pathogenicity: None; Publications: 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, OMIM:617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | TSEN15 |
Ellen McDonagh gene: TSEN15 was added gene: TSEN15 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F 617026 |
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