Familial Hirschsprung Disease

Gene: DHCR7

Amber List (moderate evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Added 'watchlist' tag alongside Amber rating.
Created: 14 Aug 2017, 10:40 a.m.
Comment on list classification: Updated rating from Red to Amber: 1 Amber review plus reports of Hirschsprung disease in patients with Smith-Lemli-Opitz syndrome (e.g. PMID:14556255 and PMID:3812577). Rated as Amber awaiting further cases of HSCR in patients with DHCR7 variants.
Created: 14 Aug 2017, 10:40 a.m.
PMID:14556255 (2003) report a 3.5 yr old girl with V326L and F284L missense mutations in DHCR7. Colonic biopsy was consistent with Hirschsprung disease.
Created: 14 Aug 2017, 10:36 a.m.
PMID:3812577 (1987) reviewed 19 previously unreported patients who they suggest have Smith-Lemli-Opitz syndrome. Autopsy found Hirschsprung disease in 5 of the patients.
Created: 5 Jun 2017, 2:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Smith-Lemli-Opitz syndrome (MIM:270400) and Hirschsprung disease


Erwin Brosens (Erasmus MC)

I don't know

History Filter Activity

18 Oct 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.

14 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

14 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DHCR7 were set to 3812577; 6886911; 14556255

5 Jun 2017, Gel status: 0


Rebecca Foulger (Genomics England curator)

DHCR7 was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DHCR7 was added to Familial Hirschsprung Diseasepanel. Sources: Other