| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.44 | CEP120 | Bryony Thompson Marked gene: CEP120 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.44 | CEP120 | Bryony Thompson Gene: cep120 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.44 | CEP120 | Bryony Thompson Classified gene: CEP120 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.44 | CEP120 | Bryony Thompson Gene: cep120 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.43 | CEP120 |
Bryony Thompson gene: CEP120 was added gene: CEP120 was added to Ataxia. Sources: Literature Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP120 were set to 38050708; 27208211 Phenotypes for gene: CEP120 were set to Joubert syndrome 31, MONDO:0033310 Review for gene: CEP120 was set to GREEN Added comment: PMID 38050708 and PMID 27208211 together report seven individuals from five families with biallelic CEP120 variants causing Joubert syndrome 31, characterised by cerebellar vermis hypoplasia, molar tooth sign, ataxic gait and abnormal breathing; ataxia is a core feature aligning this gene with the Ataxia panel. Sources: Literature |
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