| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aminoacidopathy v0.22 | CLPB | Bryony Thompson Marked gene: CLPB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.22 | CLPB | Bryony Thompson Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.22 | CLPB | Bryony Thompson Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.21 | CLPB | Bryony Thompson Publications for gene: CLPB were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.20 | CLPB | Bryony Thompson Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.19 | CLPB | Bryony Thompson Classified gene: CLPB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.19 | CLPB | Bryony Thompson Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.0 | CLPB |
Bryony Thompson gene: CLPB was added gene: CLPB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 29152456 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||