DHCR7
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DHCR7 (HGNC:2860) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
7-dehydrocholesterol reductase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SLOS
Alias symbols
No aliases found
%HI
54.8(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.09(Read more about gnomAD LOEUF score)
Cytoband
11q13.4
Genomic Coordinates
GRCh37/hg19: chr11:71145457-71159439 NCBI Ensembl UCSC
GRCh38/hg38: chr11:71434411-71448393 NCBI Ensembl UCSC
MANE Select Transcript
NM_001360.3 ENST00000355527.8 (Read more about MANE Select)
Function
7-dehydrocholesterol reductase of the cholesterol biosynthetic pathway reducing the C7-C8 double bond of cholesta-5,7- dien-3beta-ol (7-dehydrocholesterol/7-DHC) and cholesta-5,7,24-trien- 3beta-ol, two intermediates in that pathway. {ECO:0000269|PubMed:25637936, ECO:0000269|PubMed:9465114, ECO:0000269|PubMed:9634533}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36516
ClinGen Curation ID:
CCID:006985
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Homozygous loss of function mutations in DHCR7 cause Smith-Lemli-Opitz syndrome, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)