Gene "TMEM67/BBS14"
Found 1 record
Gene information
Gene symbol:
TMEM67/BBS14
See related:
Ensembl: , Gene ID:
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Variant 1:
    TMEM67/BBS14:p.Asp799Asp
    Gene:
    TMEM67/BBS14
    Genomic location:
    dbSNP ID:
    Target disease:
    Bardet-Biedl Syndrome(DOID_1935)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    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.
    Reference:
    PMID29127258
    Title:
    Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
    Species studied:
    Human
    Abstract:
    Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype.