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Fetal anomalies

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

2 reviews

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 Radial Ray Abnormalities panel version Imported from Chromosome Breakage Disorders panel version 0.97

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association
Sources: https://www.ncbi.nlm.nih.gov/books/NBK1401/
Sources: Literature
Created: 2 Sep 2020, 6:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group F, MIM# 603467

Publications

Created: 2 Sep 2020, 6:50 a.m.

Panel version: Imported from Microcephaly panel version 0.317

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • 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
Publications
Panels with this gene

History Filter Activity

21 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fancf has been classified as Green List (High Evidence).

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FANCF were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP F to Fanconi anaemia, complementation group F 603467; MONDO:0011325

21 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FANCF were set to

24 Oct 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F