| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.38 | B4GALNT1 | Bryony Thompson Marked gene: B4GALNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.38 | B4GALNT1 | Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.38 | B4GALNT1 | Bryony Thompson Classified gene: B4GALNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.38 | B4GALNT1 | Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.37 | B4GALNT1 |
Bryony Thompson gene: B4GALNT1 was added gene: B4GALNT1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to 40171946; 39145292; 37510308; 35775650 Phenotypes for gene: B4GALNT1 were set to hereditary spastic paraplegia 26, MONDO:0012213 Review for gene: B4GALNT1 was set to GREEN Added comment: PMID 35775650 reports 1 individual from 1 family, PMID 40171946 reports 2 individuals from 1 family, PMID 39145292 reports 1 individual from 1 family, and PMID 37510308 reports 5 individuals from 1 family, all carrying biallelic loss‑of‑function variants in B4GALNT1. Affected individuals present with early‑onset hereditary spastic paraplegia, progressive spastic gait, cerebellar ataxia, dystonia, optic atrophy, hearing loss and intellectual disability. Sources: Literature |
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