Monogenic short stature
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Smith Lemli Opitz
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Renal ciliopathies
- Osteogenesis imperfecta
- Neurological ciliopathies
- Monogenic short stature
- Undiagnosed metabolic disorders
- Holoprosencephaly
- Fetal hydrops
- Familial Hirschsprung Disease
- DDG2P
- Skeletal ciliopathies
- Skeletal dysplasia
- Differences in sex development
- Severe microcephaly
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Smith-Lemli-Opitz syndrome
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: DHCR7 was added gene: DHCR7 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith Lemli Opitz