| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.105 | MBOAT7 | Bryony Thompson Marked gene: MBOAT7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.105 | MBOAT7 | Bryony Thompson Gene: mboat7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.105 | MBOAT7 | Bryony Thompson Classified gene: MBOAT7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.105 | MBOAT7 | Bryony Thompson Gene: mboat7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.104 | MBOAT7 |
Bryony Thompson gene: MBOAT7 was added gene: MBOAT7 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBOAT7 were set to 30701556 Phenotypes for gene: MBOAT7 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: MBOAT7 was set to GREEN Added comment: PMID 30701556 reports 12 individuals from 7 consanguineous Turkish families (5 independent) with biallelic loss‑of‑function variants in MBOAT7 presenting with global developmental delay, severe speech impairment, intellectual disability, early‑onset epilepsy and a characteristic wide‑based ataxic gait with cerebellar dysgenesis. This neurodevelopmental disorder with prominent ataxia aligns with the Ataxia panel’s scope, as ataxic gait is a core feature of the phenotype. Sources: Literature |
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