| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.54 | FAM149B1 | Bryony Thompson Marked gene: FAM149B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.54 | FAM149B1 | Bryony Thompson Gene: fam149b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.54 | FAM149B1 | Bryony Thompson Classified gene: FAM149B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.54 | FAM149B1 | Bryony Thompson Gene: fam149b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.53 | FAM149B1 |
Bryony Thompson gene: FAM149B1 was added gene: FAM149B1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to 34828254; 30905400 Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36, MONDO:0032902 Review for gene: FAM149B1 was set to GREEN Added comment: PMID 30905400 and PMID 34828254 report a total of eight individuals from five families with biallelic loss‑of‑function FAM149B1 variants causing Joubert syndrome 36, a ciliopathy characterised by cerebellar ataxia, oculomotor apraxia, the molar‑tooth sign and, in some cases, oral‑facial‑digital anomalies. Sources: Literature |
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