Cataracts

Gene: DHCR7

Green List (high evidence)

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

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Cataracts part of SLO, which is a very variable condition in presentation.
Created: 7 Jun 2016, 12:38 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Cataracts a feature in ~12% of SLOS patients. Lots of publications describing DHCR7 mutations in SLOS but haven't found one with specific mention of cataracts
Created: 25 May 2016, 8:10 a.m.

Phenotypes
Smith-Lemli-Opitz syndrome

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Is a confirmed DD gene for SMITH-LEMLI-OPITZ SYNDROME which does include cataracts as a phenotype.
Created: 13 May 2016, 1:03 p.m.
Is on the Manchester congenital cataracts gene panel.
Created: 29 Apr 2016, 10:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

27 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DHCR7 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DHCR7 were set to Smith-Lemli-Opitz syndrome

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DHCR7 was added to Cataractspanel. Sources: UKGTN