| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic Retinopathy v0.13 | ARL13B | Bryony Thompson Marked gene: ARL13B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.13 | ARL13B | Bryony Thompson Gene: arl13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.13 | ARL13B | Bryony Thompson Classified gene: ARL13B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.13 | ARL13B | Bryony Thompson Gene: arl13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.12 | ARL13B |
Bryony Thompson gene: ARL13B was added gene: ARL13B was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL13B were set to 18674751; 30573647; 25138100; 29255182 Phenotypes for gene: ARL13B were set to Joubert syndrome 8 MIM#612291 Review for gene: ARL13B was set to GREEN Added comment: At least three families reported with retinopathy as a feature of the syndrome. An Arl13b null mouse has defects in retinal development with reduced cell proliferation. Sources: Expert list |
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