Growth failure
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. Poor growth is a key feature.Created: 22 Apr 2021, 3:56 a.m. | Last Modified: 6 Aug 2021, 5:14 a.m.
Panel Version: 0.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- 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
-
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fancg has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FANCG were changed from 614082 Fanconi anemia, complementation group G; hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FANCG were set to 16493006; 9806548
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FANCG was added gene: FANCG was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 16493006; 9806548 Phenotypes for gene: FANCG were set to 614082 Fanconi anemia, complementation group G; hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation