| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.29 | ATP6AP2 | Bryony Thompson Marked gene: ATP6AP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.29 | ATP6AP2 | Bryony Thompson Gene: atp6ap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.29 | ATP6AP2 | Bryony Thompson Classified gene: ATP6AP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.29 | ATP6AP2 | Bryony Thompson Gene: atp6ap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.28 | ATP6AP2 |
Bryony Thompson gene: ATP6AP2 was added gene: ATP6AP2 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ATP6AP2 were set to 41131679; 35779466 Phenotypes for gene: ATP6AP2 were set to X-linked parkinsonism-spasticity syndrome, MONDO:0010482; syndromic X-linked intellectual disability Hedera type, MONDO:0010319 Review for gene: ATP6AP2 was set to GREEN Added comment: ATP6AP2 encodes a V-ATPase assembly chaperone whose loss-of-function splice variants cause X-linked disorders featuring spasticity. PMID 41131679 reports four patients from three unrelated families with early‑onset neurodevelopmental impairment, epilepsy, microcephaly and spasticity, while PMID 35779466 describes an adult‑onset case of parkinsonism with spasticity. Sources: Literature |
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