| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.101 | MAB21L1 | Bryony Thompson Marked gene: MAB21L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.101 | MAB21L1 | Bryony Thompson Gene: mab21l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.101 | MAB21L1 | Bryony Thompson Classified gene: MAB21L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.101 | MAB21L1 | Bryony Thompson Gene: mab21l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.100 | MAB21L1 |
Bryony Thompson gene: MAB21L1 was added gene: MAB21L1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 30487245 Phenotypes for gene: MAB21L1 were set to cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774 Review for gene: MAB21L1 was set to GREEN Added comment: PMID 30487245 reports 10 individuals from 5 families with biallelic loss-of-function variants in MAB21L1 presenting with Cerebello-Oculo-Facio-Genital (COFG) syndrome, characterised by cerebellar hypoplasia with ataxia, ocular anomalies, distinctive facial features and genital anomalies. This gene is relevant to the Ataxia panel because the syndrome includes cerebellar hypoplasia and ataxia, core features of the panel's scope. Sources: Literature |
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