| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy v2.15 | VPS13A | Zornitza Stark Marked gene: VPS13A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.15 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.15 | VPS13A | Zornitza Stark Classified gene: VPS13A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.15 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.6 | VPS13A |
Sangavi Sivagnanasundram gene: VPS13A was added gene: VPS13A was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13A were set to 41030128 Phenotypes for gene: VPS13A were set to VPS13A-related neurodegenerative disease, MONDO:0008695 Review for gene: VPS13A was set to GREEN Added comment: PMID 41030128 reports five families with biallelic variants presenting with a neuromuscular phenotype. All affected individuals presented with areflexia, a feature of peripheral neuropathy. Sources: Literature |
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