DHCR7 Chromosome 11

7-dehydrocholesterol reductase
296 variants 296 Health Risk

Upload your DNA to see your personal genotypes for variants in DHCR7.

What This Gene Does
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
Gene Info
Gene Group
AEBS complex subunits
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000172893
Associated Conditions (26)
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
Hepatoblastoma
Microcephaly
Small for gestational age
2-3 toe syndactyly
Elevated circulating 7-dehydrocholesterol concentration
Primary microcephaly
Abnormal brain morphology
See cases
Thymoma
Melanoma
Familial cancer of breast
Acute myeloid leukemia
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
+6 more conditions
Key Variants
RS104886040
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1085307926
Conflicting classifications of pathogenicity
Health Risk
RS114143715
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1222259994
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1248898751
Conflicting classifications of pathogenicity
Inborn genetic diseases, Smith-Lemli-Opitz syndrome, Inborn genetic diseases
Health Risk
RS12800
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
Health Risk
RS1317526744
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
Health Risk
RS1318919210
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, DHCR7-related disorder, Smith-Lemli-Opitz syndrome
Health Risk
RS1333822866
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1359774813
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
Health Risk
RS1386646132
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
Health Risk
RS139166382
Conflicting classifications of pathogenicity
Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
Health Risk
All Variants (296)
RSID Category Clinical Significance Conditions
RS201270451 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS201466849 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS201556114 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135945639 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539207660 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539220754 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539220764 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539227507 Health Risk Conflicting classifications of pathogenicity —
RS28938174 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS35946774 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS367585401 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS368150818 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS368473756 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS368867929 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS369382960 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS369654651 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS370307688 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS371964662 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS372886043 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
RS373121544 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS375993195 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
RS376263149 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS377108406 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS398123606 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS4316537 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS531038145 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS542266962 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS547012639 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS561379509 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS567600444 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
RS72954276 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
RS745595242 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
RS748858240 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS751604696 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS755941916 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS759192320 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS760242 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, DHCR7-related disorder
RS762754951 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS767108226 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS768765843 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS769218623 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS775127532 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder, Smith-Lemli-Opitz syndrome
RS775201083 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS775773057 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS776577137 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS776841323 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder, Smith-Lemli-Opitz syndrome
RS777517985 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS779896782 Health Risk Conflicting classifications of pathogenicity Small for gestational age, 2-3 toe syndactyly, Elevated circulating 7-dehydrocholesterol concentration
RS780088227 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS781026169 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder, Smith-Lemli-Opitz syndrome
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