| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.223 | TMEM218 | Bryony Thompson Marked gene: TMEM218 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.223 | TMEM218 | Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.223 | TMEM218 | Bryony Thompson Classified gene: TMEM218 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.223 | TMEM218 | Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.222 | TMEM218 |
Bryony Thompson gene: TMEM218 was added gene: TMEM218 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 35137054; 33791682 Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, MONDO:0030454 Review for gene: TMEM218 was set to GREEN Added comment: Biallelic TMEM218 variants cause a Joubert/Meckel syndrome spectrum ciliopathy featuring ataxia, cerebellar vermis hypoplasia, retinal dystrophy, occipital encephalocele and polycystic kidneys. Ataxia is a feature of the Joubert syndrome phenotype. Sources: Literature |
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