Growth failure
Gene: FANCFEnsemblGeneIds (GRCh38): ENSG00000183161
EnsemblGeneIds (GRCh37): ENSG00000183161
OMIM: 613897, Gene2Phenotype
FANCF is in 14 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, 3:42 a.m. | Last Modified: 6 Aug 2021, 3:16 a.m.
Panel Version: 0.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anaemia, complementation group F 603467; MONDO:0011325
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 F 603467
- MONDO:0011325
- OMIM
- 613897
- Clinvar variants
- Variants in FANCF
- Penetrance
- None
- Publications
- Panels with this gene
-
- Radial Ray Abnormalities
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Mendeliome
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Prepair 500+
- Cancer Predisposition_Paediatric
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fancf has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FANCF were changed from Fanconi anemia, complementation group F, 603467; Fanconi anemia; 603467 Fanconi anemia, complementation group F; Fanconi Anemia to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FANCF were set to 10615118
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FANCF was added gene: FANCF was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 10615118 Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467; Fanconi anemia; 603467 Fanconi anemia, complementation group F; Fanconi Anemia