Radial dysplasia
Gene: FANCF
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:46 a.m.
Comment when marking as ready: Sufficient evidence for causationCreated: 28 Feb 2017, 1:33 p.m.
4 separate mutations in above PMID, biallelic.Created: 22 Feb 2017, 3:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group F 603467
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for FANCF were set to Fanconi anemia, complementation group F, 603467
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCF were set to Fanconi anemia, complementation group F 603467
Publications for FANCF were set to 10615118
FANCF was added to Radial dysplasiapanel. Sources: Expert list
FANCF was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCF was set to BIALLELIC, autosomal or pseudoautosomal
FANCF was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCF was added to Radial dysplasiapanel. Source: UKGTN
FANCF was created by rfoulger
FANCF was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing