Radial dysplasia
Gene: FANCC
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.
Created: 11 May 2017, 9:42 a.m.
Biallelic. Many cases reportedCreated: 22 Feb 2017, 3:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group C 227645
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 FANCC were set to Fanconi anemia, complementation group C, 227645
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCC were set to Fanconi anemia, complementation group C 227645
Publications for FANCC were set to 1574115
FANCC was added to Radial dysplasiapanel. Sources: Expert list
FANCC was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCC was set to BIALLELIC, autosomal or pseudoautosomal
FANCC was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCC was added to Radial dysplasiapanel. Source: UKGTN
FANCC was created by rfoulger
FANCC was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing