| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.62 | GBA1 | Bryony Thompson Marked gene: GBA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.62 | GBA1 | Bryony Thompson Gene: gba1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.62 | GBA1 | Bryony Thompson Classified gene: GBA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.62 | GBA1 | Bryony Thompson Gene: gba1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.61 | GBA1 |
Bryony Thompson gene: GBA1 was added gene: GBA1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: GBA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA1 were set to 28736718; 28736718; 28003644; 28003644 Phenotypes for gene: GBA1 were set to Gaucher disease type III, MONDO:0009267 Review for gene: GBA1 was set to GREEN Added comment: PMID 28736718 reports four individuals from four families with biallelic GBA1 missense variants (p.L444P or p.D409H) presenting with neuronopathic Gaucher disease type III, characterised by cerebellar ataxia, ophthalmoplegia and seizures. PMID 28003644 describes five individuals from four families homozygous for p.L444P with the same phenotype, confirming segregation in consanguineous families and excluding a shared founder haplotype. Combined, nine patients from eight independent families carry qualifying GBA1 variants, establishing GBA1‑related type III Gaucher disease as an autosomal recessive loss‑of‑function disorder with high penetrance. Cerebellar ataxia is a prominent feature, making GBA1 a relevant gene for the Ataxia panel, which curates genes causing ataxia phenotypes. Sources: Literature |
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