Cardiomyopathy_Paediatric
Gene: DHCR7
DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Cataracts
- Intellectual disability
- Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis)
- Disorders of sex development
- IUGR and IGF abnormalities
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Publications
- 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
28 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DHCR7 was added gene: DHCR7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 27604308 Phenotypes for gene: DHCR7 were set to Cataracts; Intellectual disability; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities