| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.71 | HSPD1 | Bryony Thompson Marked gene: HSPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.71 | HSPD1 | Bryony Thompson Gene: hspd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.71 | HSPD1 | Bryony Thompson Classified gene: HSPD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.71 | HSPD1 | Bryony Thompson Gene: hspd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.70 | HSPD1 |
Bryony Thompson gene: HSPD1 was added gene: HSPD1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPD1 were set to 39500555 Phenotypes for gene: HSPD1 were set to hypomyelinating leukodystrophy 4, MONDO:0012824 Review for gene: HSPD1 was set to GREEN Added comment: PMID 39500555 reports 8 individuals with heterozygous de novo missense HSPD1 variants (p.Ala536Pro, p.Ala536Val) presenting with early‑onset hypomyelinating leukodystrophy characterised by nystagmus, tremor, hypotonia, spasticity, ataxia and neuroregression. The dominant‑negative mechanism impairs HSP60 oligomerisation. Ataxia is a core feature, aligning this gene with the Ataxia panel. Sources: Literature |
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