Cytopenias and congenital anaemias
Gene: FANCFEnsemblGeneIds (GRCh38): ENSG00000183161
EnsemblGeneIds (GRCh37): ENSG00000183161
OMIM: 613897, Gene2Phenotype
FANCF is in 20 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence for causationCreated: 28 Feb 2017, 1:33 p.m.
4 separate mutations in above PMID, biallelic.Created: 22 Feb 2017, 3:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group F 603467
Publications
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group F, 603467
- OMIM
- 613897
- Clinvar variants
- Variants in FANCF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for FANCF were set to Fanconi Anemia; Fanconi anemia, complementation group F, 603467;
Set publications
Helen Brittain (Genomics England Curator)Publications for FANCF were set to 10615118
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)FANCF was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list
Created
Louise Daugherty (Genomics England Curator)FANCF was created by LouiseD