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  2. Likely inborn error of metabolism
  3. DHCR7
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Likely inborn error of metabolism

Gene: DHCR7

Green List (high evidence)
DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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
Created: 23 Jul 2019, 11:28 a.m. | Last Modified: 23 Jul 2019, 11:29 a.m.
Panel Version: 1.61
Created: 23 Jul 2019, 11:28 a.m.
Last Modified: 23 Jul 2019, 11:29 a.m.
Panel version: 1.61

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

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
Created: 21 Dec 2018, 3:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dysmorphism; Cataract

Created: 21 Dec 2018, 3:17 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 1.82

History Filter Activity

23 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dhcr7 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DHCR7. Source London North GLH was added to DHCR7.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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