| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.73 | INPP4A | Bryony Thompson Marked gene: INPP4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.73 | INPP4A | Bryony Thompson Gene: inpp4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.73 | INPP4A | Bryony Thompson Classified gene: INPP4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.73 | INPP4A | Bryony Thompson Gene: inpp4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.72 | INPP4A |
Bryony Thompson gene: INPP4A was added gene: INPP4A was added to Ataxia. Sources: Literature Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP4A were set to 39315527 Phenotypes for gene: INPP4A were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: INPP4A was set to GREEN Added comment: PMID 39315527 reports 21 affected individuals from 12 families (9 independent) with biallelic loss‑of‑function INPP4A variants causing a neurodevelopmental disorder characterised by global developmental delay, severe intellectual disability, microcephaly, limb weakness, cerebellar signs and prominent ataxia. Multiple unrelated families (≥3) harbour qualifying LoF variants, and mouse knockout models recapitulate the phenotype. Sources: Literature |
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