| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.181 | PIGG | Bryony Thompson Marked gene: PIGG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.181 | PIGG | Bryony Thompson Gene: pigg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.181 | PIGG | Bryony Thompson Classified gene: PIGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.181 | PIGG | Bryony Thompson Gene: pigg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.180 | PIGG |
Bryony Thompson gene: PIGG was added gene: PIGG was added to Ataxia. Sources: Literature Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGG were set to 41744056; 34113002; 28581210 Phenotypes for gene: PIGG were set to intellectual disability, autosomal recessive 53, MONDO:0014832 Review for gene: PIGG was set to GREEN Added comment: Biallelic loss-of-function PIGG variants present with intellectual disability, cerebellar ataxia, seizures, hypotonia and motor neuropathy. Core features include cerebellar atrophy, gait ataxia and peripheral nerve hyperexcitability. Evidence includes segregation data, functional loss-of-function assays and recurrent variants. Sources: Literature |
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