Gene "SEC23B"
Found 1 record
Gene information
Gene symbol:
SEC23B
See related:
Ensembl: ENSG00000101310, Gene ID: 10483
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:
    SEC23B:rs146917730
    Gene:
    SEC23B
    Genomic location:
    dbSNP ID:
    rs146917730
    Target disease:
    Congenital erythropoietic porphyria(Orphanet_79277)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Correlated with phenotype variability
    Reference:
    PMID25251786
    Title:
    Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
    Species studied:
    Human
    Abstract:
    Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. A correct and early diagnosis is required to develop a management plan that is appropriate to the patient's needs. Recently only one case of X-linked CEP had been reported, describing the trans-acting GATA1-R216W mutation. Here, we have characterized two novel X-linked CEP patients, both with misleading hematological phenotypes that include dyserythropoietic anemia, thrombocytopenia, and hereditary persistence of fetal hemoglobin. We compare the previously reported case to ours and propose a diagnostic paradigm for this variant of CEP. Finally, a correlation between phenotype variability and the presence of modifier mutations in loci related to disease-causing gene is described.