Osteogenesis imperfecta
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
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Skeletal ciliopathies
- Clefting
- Holoprosencephaly
- Neurological ciliopathies
- CAKUT
- DDG2P
- Undiagnosed metabolic disorders
- Monogenic short stature
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Early onset or syndromic epilepsy
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Renal ciliopathies
- Osteogenesis imperfecta
- Severe microcephaly
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Differences in sex development
- Neonatal cholestasis
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: DHCR7.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DHCR7 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory