| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Gastrointestinal neuromuscular disease v1.24 | OPA3 | Bryony Thompson Marked gene: OPA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v1.24 | OPA3 | Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v1.24 | OPA3 | Bryony Thompson Classified gene: OPA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v1.24 | OPA3 | Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v1.23 | OPA3 |
Bryony Thompson gene: OPA3 was added gene: OPA3 was added to Gastrointestinal neuromuscular disease. Sources: Literature Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPA3 were set to 31119193 Phenotypes for gene: OPA3 were set to Optic atrophy 3 MONDO:0008133 Mode of pathogenicity for gene: OPA3 was set to Other Review for gene: OPA3 was set to GREEN gene: OPA3 was marked as current diagnostic Added comment: 11 of the 12 affected individuals from 3 families with OPA3 missense (p.Met8Thr, & p.Gln105Glu) had possible or confirmed gastrointestinal dysmotility symptoms as a feature of the condition. Haploinsufficiency is not expected to be the mechanism of disease. Gain of function or dominant negative effect have been suggested mechanisms of disease. Sources: Literature |
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