Holoprosencephaly - NOT chromosomal
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on publications: added OMIM phenotype and publications to support the rating of this gene to be GreenCreated: 29 Jul 2019, 2:10 p.m. | Last Modified: 29 Jul 2019, 2:10 p.m.
Panel Version: 1.19
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp curation team added phenotype/MOI and publications to support Green review
Sources: Expert listCreated: 29 Jul 2019, 1:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Smith-Lemli-Opitz syndrome, 270400
- alobar holoprosencephaly (HPE)
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- 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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: dhcr7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: dhcr7 has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: DHCR7 was added gene: DHCR7 was added to Holoprosencephaly. Sources: Expert list Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE) Review for gene: DHCR7 was set to AMBER