| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.197 | LARS | Bryony Thompson Marked gene: LARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.197 | LARS | Bryony Thompson Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.197 | LARS | Bryony Thompson Classified gene: LARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.197 | LARS | Bryony Thompson Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.196 | LARS |
Bryony Thompson gene: LARS was added gene: LARS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS were set to 22607940; 30349989; 28774368 Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1 MIM#615438; disorder of leucine metabolism Review for gene: LARS was set to GREEN Added comment: 7 families reported Sources: NHS GMS |
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| 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 |
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