Gene: DHCR7 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338859
rs80338859
DHCR7
A 0.850 CausalMutation CLINVAR A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. 27513191

2017
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally. 25637936

2015
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs80338859
rs80338859
DHCR7
A 0.850 CausalMutation CLINVAR The results of our previous newborn screening, based on the carrier frequency of the two most common SLOS-causing mutations in Poland (p.W151X and p.V326L), would make SLOS one of the most frequent recessive disorders in our country (with an incidence of 1:2,300 - 1:3,937). 20556518

2010
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 15954111

2005
dbSNP: rs80338859
rs80338859
DHCR7
A 0.850 CausalMutation CLINVAR DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 15521979

2004
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 12949967

2003
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. 11427181

2001
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. 11175299

2001
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P). 10995508

2000
dbSNP: rs80338859
rs80338859
DHCR7
A 0.850 CausalMutation CLINVAR Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. 10814720

2000
dbSNP: rs80338859
rs80338859
DHCR7
A 0.850 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. 10896306

2000
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs80338859
rs80338859
DHCR7
A 0.850 CausalMutation CLINVAR Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del). 9653161

1998
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. 9683613

1998
dbSNP: rs80338859
rs80338859
DHCR7
0.850 GeneticVariation UNIPROT Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del). 9653161

1998
dbSNP: rs80338853
rs80338853
DHCR7
0.840 GeneticVariation UNIPROT The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally. 25637936

2015
dbSNP: rs80338853
rs80338853
DHCR7
A 0.840 CausalMutation CLINVAR High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. 22211794

2012
dbSNP: rs80338853
rs80338853
DHCR7
A 0.840 CausalMutation CLINVAR 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 15670717

2005
dbSNP: rs80338853
rs80338853
DHCR7
0.840 GeneticVariation UNIPROT Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 15954111

2005
dbSNP: rs80338853
rs80338853
DHCR7
A 0.840 CausalMutation CLINVAR The analysis included 20 Spanish and 12 Italian SLOS patients and revealed very different mutation spectra in these patients compared to previously described patients from Czechoslovakia, Germany, Poland, and the UK and implicated p.Thr93Met on the J haplotype as the most frequent Mediterranean founder mutation. 15776424

2005
dbSNP: rs80338853
rs80338853
DHCR7
A 0.840 CausalMutation CLINVAR Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 14981719

2004
dbSNP: rs80338853
rs80338853
DHCR7
0.840 GeneticVariation UNIPROT Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 12949967

2003
dbSNP: rs80338853
rs80338853
DHCR7
0.840 GeneticVariation UNIPROT Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. 11175299

2001
dbSNP: rs80338853
rs80338853
DHCR7
0.840 GeneticVariation UNIPROT Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. 11427181

2001