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IBMDx study

Gene: FANCF

Green List (high evidence)
FANCF (Fanconi anemia complementation group F)
EnsemblGeneIds (GRCh38): ENSG00000183161
EnsemblGeneIds (GRCh37): ENSG00000183161
OMIM: 613897, Gene2Phenotype
FANCF is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 3:42 a.m. | Last Modified: 22 Apr 2021, 3:42 a.m.
Panel Version: 0.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group F 603467; MONDO:0011325

Publications

Created: 22 Apr 2021, 3:42 a.m.
Last Modified: 22 Apr 2021, 3:42 a.m.
Panel version: Imported from Bone Marrow Failure panel version Imported from Chromosome Breakage Disorders panel version 0.97

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group F 603467
  • MONDO:0011325
OMIM
613897
Clinvar variants
Variants in FANCF
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FANCF was added gene: FANCF was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: FANCF was set to Unknown Phenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467; MONDO:0011325