IBMDx study
Gene: FANCGEnsemblGeneIds (GRCh38): ENSG00000221829
EnsemblGeneIds (GRCh37): ENSG00000221829
OMIM: 602956, Gene2Phenotype
FANCG is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- MONDO:0013565
- Fanconi anaemia, complementation group G, MIM# 614082
- OMIM
- 602956
- Clinvar variants
- Variants in FANCG
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
- Growth failure
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FANCG was added gene: FANCG was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: FANCG was set to Unknown Phenotypes for gene: FANCG were set to MONDO:0013565; Fanconi anaemia, complementation group G, MIM# 614082