| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.199 | LBR | Bryony Thompson Marked gene: LBR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.199 | LBR | Bryony Thompson Gene: lbr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.199 | LBR | Bryony Thompson Classified gene: LBR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.199 | LBR | Bryony Thompson Gene: lbr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.198 | LBR |
Bryony Thompson gene: LBR was added gene: LBR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBR were set to 12618959; 27604308 Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia MIM#215140; Disorders of sterol biosynthesis Review for gene: LBR was set to GREEN gene: LBR was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Greenberg dysplasia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism. Sources: NHS GMS |
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