Undiagnosed metabolic disorders
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
2 reviews
Saikat Santra (Birmingham Children's Hospital)
Although single gene testing has been commissioned for DHCR7, it is well established as an inherited metabolic disorder and ought to be included in the overall panel in case it has not been biochemically excluded initiallyCreated: 21 Dec 2018, 3:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysmorphism; Cataract
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.Created: 23 Jul 2019, 11:27 a.m. | Last Modified: 23 Jul 2019, 11:27 a.m.
Panel Version: 1.120
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 1:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IUGR and IGF abnormalities
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
- Cataracts
- Disorders of sex development
- Intellectual disability
- IUGR and IGF abnormalities
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Differences in sex development
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Skeletal ciliopathies
- Neurological ciliopathies
- IUGR and IGF abnormalities
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dhcr7 has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)DHCR7 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)DHCR7 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)DHCR7 was created by sleigh