Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Miscellaneous Metabolic Disorders v0.38 | ALDH3A2 | Bryony Thompson Marked gene: ALDH3A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.38 | ALDH3A2 | Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.38 | ALDH3A2 | Bryony Thompson Classified gene: ALDH3A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.38 | ALDH3A2 | Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Miscellaneous Metabolic Disorders v0.37 | ALDH3A2 |
Bryony Thompson gene: ALDH3A2 was added gene: ALDH3A2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 8528251; 31273323 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; disorder of lipid metabolism Review for gene: ALDH3A2 was set to GREEN gene: ALDH3A2 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry), and causes an inborn error of lipid metabolism. Sources: NHS GMS |