| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - adult onset v1.16 | PNPT1 | Zornitza Stark Publications for gene: PNPT1 were set to 35411967 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v1.15 | PNPT1 | Chris Ciotta reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37935417; Phenotypes: Spinocerebellar ataxia 25 (MIM#608703); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.165 | PNPT1 | Zornitza Stark Marked gene: PNPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.165 | PNPT1 | Zornitza Stark Gene: pnpt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.165 | PNPT1 | Zornitza Stark Classified gene: PNPT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.165 | PNPT1 | Zornitza Stark Gene: pnpt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.164 | PNPT1 |
Zornitza Stark gene: PNPT1 was added gene: PNPT1 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: PNPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNPT1 were set to 35411967 Phenotypes for gene: PNPT1 were set to Spinocerebellar ataxia 25, MIM# 608703 Review for gene: PNPT1 was set to AMBER Added comment: Three families reported with heterozygous variants and SCA25. Incomplete penetrance in one of the families. In the third family, the variant was inherited from an asymptomatic 80+ year old. Note bi-allelic variants in this gene cause a mitochondrial disorder. Exact mechanism through which mono-allelic variants cause SCA25 not elucidated: authors speculate abnormal accumulation of mitochondrial RNA with subsequent leakage into the cytosol that may trigger a type 1 interferon response leading to neuroinflammation with neuronal dysfunction or neuronal loss. Sources: Literature |
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