Severe microcephaly
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome 270400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Smith-Lemli-Opitz syndrome 270400
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- DDG2P
- Fetal anomalies
- Differences in sex development
- Clefting
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- 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
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neonatal cholestasis
- Severe microcephaly
- Undiagnosed metabolic disorders
- Holoprosencephaly - NOT chromosomal
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DHCR7.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)DHCR7 was created by agardham
Added New Source
Alice Gardham (Genomics England)DHCR7 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN