PhenoModifier-Gene Detail

Gene "SLC4A4"

Found 1 record

Gene information

Gene symbol:

SLC4A4

See related:

Ensembl: ENSG00000080493, Gene ID: 8671

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

1

Disorder:

1

Vriant:

1

Reference:

1

Effect type:

Pleiotropy(1)

Modifier effect:

Altered phenotype(1)

Detail：

Variant 1:

SLC4A4:variant

Gene:

SLC4A4

Genomic location:

dbSNP ID:

Target disease:

Cystic fibrosis(DOID_1485)

Effect type:

Pleiotropy

Modifier effect:

Altered phenotype

Evidence:

From review article

Effect:

Meconium ileus

Reference:

PMID25053892

Title:

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.

Species studied:

Human

Abstract:

The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and molecular medicine allow huge amounts of information to be generated from individual samples within a reasonable time frame. This review focuses on the role of modifier genes using the example of cystic fibrosis, the most common lethal autosomal recessive disorder in the white population, and discusses the advantages and limitations of candidate gene approaches versus genome-wide association studies. Moreover, the implications of modifier gene research for other monogenic disorders, as well as its significance for diagnostic, prognostic, and therapeutic approaches are summarized. Increasing insight into modifying mechanisms opens up new perspectives, dispelling the idea of genetic disorders being caused by one single gene.