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| Likely inborn error of metabolism - targeted testing not possible v1.61 | DHCR7 |
Sarah Leigh changed review comment from: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.; to: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported. Although single gene testing has been commissioned for DHCR7, it is well established as an inherited metabolic disorder and ought to be included in the overall panel in case it has not been biochemically excluded initially Saikat Santra (Birmingham Children's Hospital), 21 Dec 2018 |
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| Likely inborn error of metabolism - targeted testing not possible v1.61 | DHCR7 | Sarah Leigh Classified gene: DHCR7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.61 | DHCR7 | Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.61 | DHCR7 | Sarah Leigh Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | DHCR7 |
Ivone Leong Source NHS GMS was added to DHCR7. Source London North GLH was added to DHCR7. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DHCR7 |
Ellen McDonagh gene: DHCR7 was added gene: DHCR7 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 27604308 Phenotypes for gene: DHCR7 were set to Intellectual disability; IUGR and IGF abnormalities; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; Cataracts |
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