Disorder "Bardet-Biedl Syndrome"
Found 12 records
Disorder information
Disorder name:
Bardet-Biedl Syndrome 
Disoder ID:
OMIM entry:
Definition:
An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. 
Modifier statisitcs
Record:
12 
Gene:
Variant:
11 
Reference:
Effect type:
Expressivity(7) ,Pleiotropy(5)  
Modifier effect:
Altered severity(5) ,Novel seizure phenotype(5) ,Altered effect of disease causing mutation(1) ,Risk factor(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
TMEM67/BBS14 TMEM67/BBS14:p.Asp799Asp Expressivity  Altered severity  Assessment of genotype–phenotype associations  CCDC28B and TMEM67, have been reported as modifier alleles that in the heterozygous state could increase the severity of BBS caused by a homozygous mutation in another BBS gene.more more
MKS1 MKS1:c.1112_1114del(p.Phe371del) Pleiotropy  Novel seizure phenotype  Pedigree analysis  Novel seizure phenotypemore more
MKS1:c.1476T>G(p.Cys492Trp) Pleiotropy  Novel seizure phenotype  Pedigree analysis  Novel seizure phenotypemore more
MKS1:c.248A>G(p.Asp83Gly) Pleiotropy  Novel seizure phenotype  Pedigree analysis  Novel seizure phenotypemore more
MKS1:c.368G>A(p.Arg123Gln) Pleiotropy  Novel seizure phenotype  Pedigree analysis  Novel seizure phenotypemore more
MKS1:p.Ile450Thr Pleiotropy  Novel seizure phenotype  Pedigree analysis  Novel seizure phenotypemore more
MKKS MKKS:c.1015A>G(p.Ile339Val) Expressivity  Altered severity  Assessment of genotype–phenotype associations  Modifier alleles for BBSmore more
CCDC28B CCDC28B:c.330C>T(p.Phe110Phe) Expressivity  Altered severity  Assessment of genotype–phenotype associations  CCDC28B and TMEM67, have been reported as modifier alleles that in the heterozygous state could increase the severity of BBS caused by a homozygous mutation in another BBS gene.more more
CCDC28B:c.430C/T Expressivity  Risk factor  Gene activity study  The 430T allele enhances the use of a cryptic splice acceptor site, causing the introduction of a premature termination codon (PTC) and the reduction of steady-state MGC1203 messenger RNA levels.more more
CCDC28B:c.330C>T(p.Phe110Phe) Expressivity  Altered effect of disease causing mutation  Gene activity study  epistatic allelemore more
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