| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.126 | DHCR7 | Bryony Thompson Marked gene: DHCR7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.126 | DHCR7 | Bryony Thompson Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.126 | DHCR7 | Bryony Thompson Classified gene: DHCR7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.126 | DHCR7 | Bryony Thompson Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.125 | DHCR7 |
Bryony Thompson gene: DHCR7 was added gene: DHCR7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 7560069; 9634533 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome MIM#270400; Disorders of sterol biosynthesis Review for gene: DHCR7 was set to GREEN gene: DHCR7 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). Smith-Lemli-Opitz syndrome 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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