Gene "ABCA4"
Found 7 records
Gene information
Gene symbol:
ABCA4
See related:
Ensembl: ENSG00000198691, Gene ID: 24
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
7 
Disorder:
3 
Vriant:
3 
Reference:
1 
Effect type:
Expressivity(7)  
Modifier effect:
Altered severity(7)  
Details：
  • Variant 1:
    ABCA4:p.Arg229His
    Gene:
    ABCA4
    Genomic location:
    dbSNP ID:
    Target disease:
    Cone-Rod Dystrophy(DOID_0050572)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
  • Variant 2:
    ABCA4:p.Arg229His
    Gene:
    ABCA4
    Genomic location:
    dbSNP ID:
    Target disease:
    Macular Corneal Dystrophy(DOID_2565)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
  • Variant 3:
    ABCA4:c.6148G>C(p.Val2050Leu)
    Gene:
    ABCA4
    Genomic location:
    chr1:94467548
    dbSNP ID:
    rs41292677
    Alias:
    ABCA4:rs41292677
    Target disease:
    Cone-Rod Dystrophy(DOID_0050572)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
  • Variant 4:
    ABCA4:c.6148G>C(p.Val2050Leu)
    Gene:
    ABCA4
    Genomic location:
    chr1:94467548
    dbSNP ID:
    rs41292677
    Alias:
    ABCA4:rs41292677
    Target disease:
    Macular Corneal Dystrophy(DOID_2565)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
  • Variant 5:
    ABCA4:c.6148G>C(p.Val2050Leu)
    Gene:
    ABCA4
    Genomic location:
    chr1:94467548
    dbSNP ID:
    rs41292677
    Alias:
    ABCA4:rs41292677
    Target disease:
    Patterned macular dystrophy(DOID_0060863)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    Patients carrying all three mutations were the most severely affected.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
  • Variant 6:
    ABCA4:c.514G>A(p.Gly172Ser)
    Gene:
    ABCA4
    Genomic location:
    chr1:94568627
    dbSNP ID:
    rs61748532
    Target disease:
    Cone-Rod Dystrophy(DOID_0050572)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.
  • Variant 7:
    ABCA4:c.514G>A(p.Gly172Ser)
    Gene:
    ABCA4
    Genomic location:
    chr1:94568627
    dbSNP ID:
    rs61748532
    Target disease:
    Macular Corneal Dystrophy(DOID_2565)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.
    Reference:
    PMID20335603
    Title:
    ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Species studied:
    Human
    Abstract:
    To identify the causative mutation leading to autosomal dominant macular dystrophy, cone dystrophy, and cone-rod dystrophy in a five-generation family and to explain the high intrafamilial phenotypic variation by identifying possible modifier genes.