| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.52 | ERCC6 | Bryony Thompson Marked gene: ERCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.52 | ERCC6 | Bryony Thompson Gene: ercc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.52 | ERCC6 | Bryony Thompson Classified gene: ERCC6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.52 | ERCC6 | Bryony Thompson Gene: ercc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.51 | ERCC6 |
Bryony Thompson gene: ERCC6 was added gene: ERCC6 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6 were set to 38674442; 37532514 Phenotypes for gene: ERCC6 were set to Cockayne syndrome type 2, MONDO:0019570 Review for gene: ERCC6 was set to GREEN Added comment: PMID 37532514 reports 2 individuals from 1 family with biallelic ERRC6 missense variants causing adult‑onset cerebellar ataxia within Cockayne syndrome type B; PMID 38674442 reports 8 individuals from 8 families with biallelic loss‑of‑function ERCC6 variants causing Cockayne syndrome types I‑III with progressive ataxia, spasticity and microcephaly. Combined evidence (9 families reported, 5 independent qualifying families) supports ERCC6 as a diagnostic‑grade gene for the Ataxia panel given the autosomal recessive, highly penetrant loss‑of‑function mechanism and lack of contradictory data. Sources: Literature |
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