| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.28 | ABHD5 | Bryony Thompson Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; lipid metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.11 | ABHD5 | Bryony Thompson Marked gene: ABHD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.11 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.11 | ABHD5 | Bryony Thompson Classified gene: ABHD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.11 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.10 | ABHD5 |
Bryony Thompson gene: ABHD5 was added gene: ABHD5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 30795549 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis Review for gene: ABHD5 was set to GREEN gene: ABHD5 was marked as current diagnostic Added comment: Well-established disease gene (see OMIM) that is involved in lipid metabolism. Sources: NHS GMS |
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