| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.34 | ANK3 | Bryony Thompson Marked gene: ANK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.34 | ANK3 | Bryony Thompson Gene: ank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.34 | ANK3 | Bryony Thompson Classified gene: ANK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.34 | ANK3 | Bryony Thompson Gene: ank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.33 | ANK3 |
Bryony Thompson gene: ANK3 was added gene: ANK3 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ANK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANK3 were set to 40879451; 36777705 Phenotypes for gene: ANK3 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: ANK3 was set to GREEN Added comment: ANK3 encodes ankyrin‑G, a neuronal scaffold protein, and pathogenic variants have been linked to neurodevelopmental disorders featuring cerebellar ataxia. Maroofian2025 reports five individuals from three unrelated consanguineous families with biallelic loss‑of‑function ANK3 variants (splice and frameshift) presenting with childhood‑onset cerebellar ataxia, developmental delay, intellectual disability, hypotonia and variable epilepsy. The disorder follows autosomal recessive inheritance, shows high penetrance, and mouse knockout recapitulates the ataxic phenotype, supporting loss‑of‑function as the mechanism. Younus2023 describes a single Pakistani consanguineous family with a homozygous missense ANK3 p.Tyr60His variant; the proband has intellectual disability, ataxia, seizures, speech impairment and aggressive behaviour. Sources: Literature |
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