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| Gastrointestinal neuromuscular disease v0.10 | RRM2B | Bryony Thompson Marked gene: RRM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.10 | RRM2B | Bryony Thompson Gene: rrm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.10 | RRM2B | Bryony Thompson edited their review of gene: RRM2B: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.10 | RRM2B | Bryony Thompson Mode of inheritance for gene: RRM2B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.9 | RRM2B | Bryony Thompson Classified gene: RRM2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.9 | RRM2B | Bryony Thompson Gene: rrm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.8 | RRM2B |
Bryony Thompson gene: RRM2B was added gene: RRM2B was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RRM2B were set to 19667227; 23107649 Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077 Review for gene: RRM2B was set to GREEN Added comment: Gastrointestinal disturbances have been reported in 6/31 cases with adult onset cases with biallelic and monoallelic variants. Sources: Expert list |
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