Gene: DHCR7 ×
Source: CLINVAR ×
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 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
A 0.850 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families. 10896306

2000
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
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 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
A 0.850 CausalMutation CLINVAR DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. 15521979

2004
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 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
A 0.840 CausalMutation CLINVAR 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: rs80338853
rs80338853
DHCR7
A 0.840 GeneticVariation CLINVAR

dbSNP: rs80338853
rs80338853
DHCR7
A 0.840 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. 10602371

1999
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
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 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs80338853
rs80338853
DHCR7
A 0.840 CausalMutation CLINVAR Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 14981719

2004
dbSNP: rs61757582
rs61757582
DHCR7
A 0.810 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: rs61757582
rs61757582
DHCR7
A 0.810 CausalMutation CLINVAR Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 15954111

2005
dbSNP: rs61757582
rs61757582
DHCR7
A 0.810 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180

2012
dbSNP: rs61757582
rs61757582
DHCR7
A 0.810 CausalMutation CLINVAR Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. 15896653

2005
dbSNP: rs61757582
rs61757582
DHCR7
A 0.810 CausalMutation CLINVAR [Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. 12818773

2003
dbSNP: rs61757582
rs61757582
DHCR7
A 0.810 CausalMutation CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
dbSNP: rs80338860
rs80338860
DHCR7
A 0.810 CausalMutation CLINVAR Mutational spectrum of Smith-Lemli-Opitz syndrome. 23042628

2012
dbSNP: rs80338860
rs80338860
DHCR7
A 0.810 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: rs80338860
rs80338860
DHCR7
A 0.810 CausalMutation CLINVAR Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. 16983147

2006
dbSNP: rs80338860
rs80338860
DHCR7
A 0.810 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. 10602371

1999