| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia v2.46 | CLN8 | Bryony Thompson Marked gene: CLN8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.46 | CLN8 | Bryony Thompson Gene: cln8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.46 | CLN8 | Bryony Thompson Classified gene: CLN8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.46 | CLN8 | Bryony Thompson Gene: cln8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.45 | CLN8 |
Bryony Thompson gene: CLN8 was added gene: CLN8 was added to Ataxia. Sources: Literature Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN8 were set to 36011304; 31982899; 30741402 Phenotypes for gene: CLN8 were set to neuronal ceroid lipofuscinosis 8, MONDO:0010830 Review for gene: CLN8 was set to GREEN Added comment: PMID 31982899, PMID 30741402 and PMID 36011304 report a total of 6 patients from 4 unrelated families with biallelic CLN8 variants causing neuronal ceroid lipofuscinosis 8, a neurodegenerative disorder characterised by seizures, progressive ataxia, visual loss and neuroregression; the presence of progressive ataxia makes this association relevant to the Ataxia panel. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||