Fanconi Anemia, Complementation Group G

Alternative Names

  • FANCG

Associated Genes

FANCG Gene
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

OMIM Number

614082

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9p13.3

Description

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair. Fanconi anemia of complementation group G (FANCG) is caused by homozygous or compound heterozygous mutation in the FANCG gene on chromosome 9p13. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
600901.1LebanonFemaleYes Pancytopenia; Growth delay; Ectopic ki...NM_004629.2:c.181C>THeterozygous, HomozygousAutosomal, RecessiveFarah et al. 2020
614082.1LebanonFemale Absent radius; Absent thumb; Abnormal ...NM_004629.2:c.452T>AHomozygousFarah et al. 2020
614082.2.1LebanonMaleYesYes Anemia; Chromosomal breakage induced by ...NM_004629.1:c.1761-1G>CHomozygousAutosomal, Recessivede Winter et al. 1998
614082.2.2LebanonMaleYesYes Anemia; Chromosomal breakage induced by ...NM_004629.1:c.1761-1G>CHomozygousAutosomal, Recessivede Winter et al. 1998 Sibling of 614082.2....
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