This Panel is marked as Retired
Growth failure in early childhood
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
-
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- DDG2P
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Bilateral congenital or childhood onset cataracts
- Neonatal cholestasis
- Skeletal dysplasia
- Neurological ciliopathies
- Severe microcephaly
- Structural eye disease
- Early onset or syndromic epilepsy
- Fetal anomalies
- Skeletal ciliopathies
- Clefting
- CAKUT
- Holoprosencephaly - NOT chromosomal
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Differences in sex development
- Undiagnosed metabolic disorders
- Renal ciliopathies
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Monogenic short stature
- Intellectual disability
History Filter Activity
30 May 2019, Gel status: 1
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to DHCR7. Rating Changed from Green List (high evidence) to Red List (low evidence)
14 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DHCR7 was added gene: DHCR7 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith Lemli Opitz