| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.58 | GALC | Bryony Thompson Marked gene: GALC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.58 | GALC | Bryony Thompson Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.58 | GALC | Bryony Thompson Classified gene: GALC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.58 | GALC | Bryony Thompson Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.57 | GALC |
Bryony Thompson gene: GALC was added gene: GALC was added to Ataxia. Sources: Literature Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 36341094; 35002157; 32484059; 26915362 Phenotypes for gene: GALC were set to Krabbe disease, MONDO:0009499 Review for gene: GALC was set to GREEN Added comment: PMID 26915362 reports five affected individuals from a French‑Canadian family with adult‑onset Krabbe disease and predominant cerebellar ataxia; PMID 32484059 describes a single juvenile‑onset case presenting with ataxia, motor regression and rapid disease progression; PMID 35002157 presents two unrelated Indian families with infantile and juvenile Krabbe disease, both showing ataxia, spastic quadriparesis and optic atrophy; PMID 36341094 reports an adult case with gait ataxia, progressive myoclonic epilepsy and an asymmetric occipital lesion. All cases are caused by biallelic loss‑of‑function GALC variants, establishing recessive Krabbe disease as a monogenic disorder with cerebellar ataxia. Sources: Literature |
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