ClinGen Dosage Sensitivity Curation Page

FANCA

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)

Haploinsufficiency phenotype comments:

Genetic defects in the FANCA gene cause Fanconi anemia (FA), an autosomal recessive disorder characterized clinically by developmental abnormalities, progressive bone-marrow failure, and predisposition to leukemia and solid tumors. The mutation spectrum of the FANCA gene, located on chromosome 16q24.3, is highly heterogeneous. There is a high prevalence of large intragenic deletions (PMIDs 9711872, 9721219, 10521298, 15162062, 15643609). In the absence of phenotypic overlap with Fanconi anemia, the detection of a heterozygous deletion may be considered as a variant conferring carrier status only.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No literature identified.