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DDG2P

Gene: FANCF

Green List (high evidence)
FANCF (Fanconi anemia complementation group F)
EnsemblGeneIds (GRCh38): ENSG00000183161
EnsemblGeneIds (GRCh37): ENSG00000183161
OMIM: 613897, Gene2Phenotype
FANCF is in 20 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease FANCONI ANEMIA, COMPLEMENTATION GROUP F, OMIM:603467 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 26033879;9382107;10615118).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP F, OMIM:603467

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: FANCF were updated from 10615118; 9382107 to 26033879; 10615118; 9382107

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FANCF was added gene: FANCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 10615118; 9382107 Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467