Monogenic short stature
Gene: FANCF

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.
Created: 30 May 2019, 9:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi Anemia; 603467 Fanconi anemia, complementation group F; Fanconi anemia, complementation group F, 603467

Publications

10615118

Created: 30 May 2019, 9:51 a.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Fanconi anemia, complementation group F, OMIM:603467

OMIM

613897

Clinvar variants

Variants in FANCF

Penetrance

None

Publications

10615118

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: FANCF was added gene: FANCF was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 10615118 Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, OMIM:603467

Monogenic short stature Gene: FANCF