Holoprosencephaly and septo-optic dysplasia
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels
4 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Reports of HPE phenotype.
Sources: Expert listCreated: 9 Apr 2021, 7:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Publications
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). Smith-Lemli-Opitz syndrome is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of sterol metabolism.
Sources: NHS GMSCreated: 3 Feb 2021, 2:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome MIM#270400; Disorders of sterol biosynthesis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Elena Savva (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 Review
Sources: Expert listCreated: 20 May 2020, 6:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome (MIM#270400)
Publications
- PMID 23059950
Crystle Lee (Victorian Clinical Genetics Services)
Well reported to cause SLOSCreated: 18 May 2020, 3:32 a.m. | Last Modified: 18 May 2020, 3:32 a.m.
Panel Version: 0.2825
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome (MIM#270400)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- NHS GMS
- 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
-
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhcr7 has been classified as Green List (High Evidence).
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 Holoprosencephaly and septo-optic dysplasia. 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 GREEN