| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.235 | WIPI2 | Bryony Thompson Marked gene: WIPI2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.235 | WIPI2 | Bryony Thompson Gene: wipi2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.235 | WIPI2 | Bryony Thompson Classified gene: WIPI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.235 | WIPI2 | Bryony Thompson Gene: wipi2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.234 | WIPI2 |
Bryony Thompson gene: WIPI2 was added gene: WIPI2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WIPI2 were set to 34557665 Phenotypes for gene: WIPI2 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: WIPI2 was set to AMBER Added comment: PMID 34557665 reports 3 individuals from 2 consanguineous families with biallelic missense WIPI2 variants with ataxia as a feature of the phenotype. Sources: Literature |
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