Skeletal Dysplasia_Fetal
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels
4 reviews
Belinda Chong (Victorian Clinical Genetics Services)
80%-84% of individuals have Microcephaly (https://www.ncbi.nlm.nih.gov/books/NBK1143/, ClinVar)
More than 200 mutations that cause Smith-Lemli-Opitz syndrome have been identified in the DHCR7 gene. (https://databases.lovd.nl/shared/genes/DHCR7)
Sources: LiteratureCreated: 1 Sep 2020, 11:55 p.m. | Last Modified: 2 Sep 2020, 5:59 a.m.
Panel Version: 0.273
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome 270400
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert listCreated: 24 May 2020, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome, MIM# 270400
Crystle Lee (Victorian Clinical Genetics Services)
Not a ciliopathy however presents with many overlapping JS features including central nervous system anomalies, cleft palate, postaxial polydactyly
PanelApp UK: Important differential diagnosis of ciliopathy
Sources: Expert ReviewCreated: 18 May 2020, 3:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome (MIM#270400)
Publications
Elena Savva (Victorian Clinical Genetics Services)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- Phenotypes
-
- Smith-Lemli-Opitz syndrome, MIM#270400
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Polydactyly
- Clefting disorders
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Differences of Sex Development
- Skeletal dysplasia
- Skeletal Dysplasia_Fetal
- Mendeliome
- Photosensitivity Syndromes
- Prepair 500+
- Callosome
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Autism
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Cholestasis
- Cardiomyopathy_Paediatric
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Hand and foot malformations
- Holoprosencephaly and septo-optic dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Cataract
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhcr7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM#270400
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DHCR7 was added gene: DHCR7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DHCR7 was set to Unknown