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:
6
Variant:
11
Reference:
4
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 |