Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ataxia - paediatric v0.152 | RNF216 | Bryony Thompson Marked gene: RNF216 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.152 | RNF216 | Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.152 | RNF216 | Bryony Thompson Classified gene: RNF216 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.152 | RNF216 | Bryony Thompson Gene: rnf216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - paediatric v0.151 | RNF216 |
Bryony Thompson gene: RNF216 was added gene: RNF216 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Review for gene: RNF216 was set to GREEN Added comment: Onset of ataxia is variable and can be from early childhood (ORPHA:1173). Sources: Expert list |