Familial Hirschsprung Disease
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 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
Phenotypes
Smith-Lemli-Opitz syndrome (MIM:270400) and Hirschsprung disease
Publications
Erwin Brosens (Erasmus MC)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Smith-Lemli-Opitz syndrome (MIM:270400) and Hirschsprung disease
- Tags
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Differences in sex development
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Skeletal ciliopathies
- Neurological ciliopathies
- IUGR and IGF abnormalities
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for DHCR7 were set to 3812577; 6886911; 14556255
Created
Rebecca Foulger (Genomics England curator)DHCR7 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)DHCR7 was added to Familial Hirschsprung Diseasepanel. Sources: Other