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| Hereditary Neuropathy v2.49 | PNPT1 | Zornitza Stark Marked gene: PNPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.49 | PNPT1 | Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.49 | PNPT1 | Zornitza Stark Classified gene: PNPT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.49 | PNPT1 | Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.48 | PNPT1 |
Zornitza Stark gene: PNPT1 was added gene: PNPT1 was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: PNPT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 39924761; 39899068; 28708278; 27759031 Phenotypes for gene: PNPT1 were set to combined oxidative phosphorylation defect type 13, MONDO:0013977; spinocerebellar ataxia type 25, MONDO:0012103 Review for gene: PNPT1 was set to GREEN Added comment: Mono-allelic association: PMID 39899068 and PMID 39924761 report three unrelated families with heterozygous loss‑of‑function variants in PNPT1 causing spinocerebellar ataxia type 25 (SCA25), characterised by progressive cerebellar ataxia, cerebellar atrophy and sensory neuropathy. Bi-allelic association: PMID 27759031 describes a consanguineous family with compound heterozygous missense variants leading to a combined oxidative phosphorylation defect type 13, presenting with severe early‑onset axonal peripheral neuropathy, optic atrophy, auditory neuropathy, intellectual disability and multisystem involvement (1 family, 2 patients); functional studies in patient fibroblasts showed loss of PNPT1 protein and rescue by wild‑type expression. Sources: Literature |
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