| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic Retinopathy v0.37 | VPS13B | Bryony Thompson Marked gene: VPS13B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.37 | VPS13B | Bryony Thompson Gene: vps13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.37 | VPS13B | Bryony Thompson Classified gene: VPS13B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.37 | VPS13B | Bryony Thompson Gene: vps13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.36 | VPS13B |
Bryony Thompson gene: VPS13B was added gene: VPS13B was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13B were set to 31580008; 24334764 Phenotypes for gene: VPS13B were set to Cohen syndrome MIM#216550 Review for gene: VPS13B was set to GREEN Added comment: Retinopathy is a common feature of the condition. >10 cases reported. Sources: Expert list |
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