Pigmentary skin disorders
Gene: FANCFEnsemblGeneIds (GRCh38): ENSG00000183161
EnsemblGeneIds (GRCh37): ENSG00000183161
OMIM: 613897, Gene2Phenotype
FANCF is in 20 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- FANCONI ANEMIA, COMPLEMENTATION GROUP F
- FANCF
- OMIM
- 613897
- Clinvar variants
- Variants in FANCF
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF for gene: FANCF Publications for gene FANCF were changed from to 10615118
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to FANCF. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: FANCF was added gene: FANCF was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal