Bone Marrow Failure
Gene: FANCG

FANCG (Fanconi anemia complementation group G)
EnsemblGeneIds (GRCh38): ENSG00000221829
EnsemblGeneIds (GRCh37): ENSG00000221829
OMIM: 602956, Gene2Phenotype
FANCG is in 15 panels

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group G

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2024, 8:42 a.m.
Last Modified: 22 May 2024, 8:42 a.m.
Panel version: 1.91

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.
Created: 22 Apr 2021, 3:56 a.m. | Last Modified: 22 Apr 2021, 3:56 a.m.

Panel Version: 0.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565

Publications

Created: 22 Apr 2021, 3:56 a.m.
Last Modified: 22 Apr 2021, 3:56 a.m.
Panel version: Imported from Chromosome Breakage Disorders panel version 0.100

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Fanconi anaemia, complementation group G, MIM# 614082
MONDO:0013565

OMIM

602956

Clinvar variants

Variants in FANCG

Penetrance

None

Publications

Panels with this gene