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| Hereditary Spastic Paraplegia v2.27 | ATP1A3 | Bryony Thompson Marked gene: ATP1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.27 | ATP1A3 | Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.27 | ATP1A3 | Bryony Thompson Classified gene: ATP1A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.27 | ATP1A3 | Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.26 | ATP1A3 |
Bryony Thompson gene: ATP1A3 was added gene: ATP1A3 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 40322871; 37043503 Phenotypes for gene: ATP1A3 were set to Syndromic disease, MONDO:0002254 Review for gene: ATP1A3 was set to GREEN Added comment: PMID 40322871 reports one adult‑onset hereditary spastic paraplegia (HSP) case with a de novo heterozygous ATP1A3 variant; PMID 37043503 describes nine unrelated individuals from nine families with heterozygous ATP1A3 p.Pro775Leu variants who present with spasticity and developmental delay/intellectual disability, four of which are de novo confirmed. Sources: Literature |
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