| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.56 | GABRB2 | Bryony Thompson Marked gene: GABRB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.56 | GABRB2 | Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.56 | GABRB2 | Bryony Thompson Classified gene: GABRB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.56 | GABRB2 | Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.55 | GABRB2 |
Bryony Thompson gene: GABRB2 was added gene: GABRB2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB2 were set to 33325057; 29100083 Phenotypes for gene: GABRB2 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: GABRB2 was set to GREEN Added comment: PMID 33325057 reports 25 individuals from 22 families with heterozygous de novo missense GABRB2 variants presenting with a neurodevelopmental disorder that includes epilepsy, developmental delay and ataxia. Ataxia is observed in three individuals from three independent families. An additional case with ataxia is reported in PMID 29100083. Ataxia is present in >10% of cases, aligning with the Ataxia panel’s focus on disorders where ataxia is a prominent feature. Sources: Literature |
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