Paediatric or syndromic cardiomyopathy
Gene: DHCR7
DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
1 review
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- London South GLH
- Phenotypes
-
- Cataracts
- Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
- Disorders of sex development
- IUGR and IGF abnormalities
- Intellectual disability
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Skeletal ciliopathies
- Clefting
- CAKUT
- Holoprosencephaly - NOT chromosomal
- Childhood onset dystonia, chorea or related movement disorder
- Differences in sex development
- Severe microcephaly
- Undiagnosed metabolic disorders
- Intellectual disability
- Skeletal dysplasia
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Structural eye disease
- Neurological ciliopathies
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- IUGR and IGF abnormalities
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Neonatal cholestasis
History Filter Activity
2 Dec 2019, Gel status: 1
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to DHCR7. Source NHS GMS was added to DHCR7. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
4 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DHCR7 was added gene: DHCR7 was added to Cardiomyopathies - including childhood onset. Sources: London South GLH,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 Cataracts; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities; Intellectual disability