Neonatal cholestasis
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: The phenotype Smith-Lemli-Opitz syndrome 270400 does not appear to have hepatic involvementCreated: 14 Aug 2018, 10:35 a.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemil-Opitz syndrome; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Smith-Lemli-Opitz syndrome 270400
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- CAKUT
- Likely inborn error of metabolism
- Differences in sex development
- Paediatric or syndromic cardiomyopathy
- Neurological ciliopathies
- Bilateral congenital or childhood onset cataracts
- Skeletal dysplasia
- Undiagnosed metabolic disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Osteogenesis imperfecta
- Fetal hydrops
- Familial Hirschsprung Disease
- Skeletal ciliopathies
- Severe microcephaly
- Renal ciliopathies
- Holoprosencephaly
- Monogenic short stature
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Smith-Lemli-Opitz syndrome
- Early onset or syndromic epilepsy
- DDG2P
- Neonatal cholestasis
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dhcr7 has been classified as Red List (Low Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to DHCR7. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)DHCR7 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)DHCR7 was created by Ellen McDonagh