Radial dysplasia
Gene: FANCE
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:44 a.m.
Comment when marking as ready: At least three cases with biallelic mutations, fulfil FA phenotypeCreated: 28 Feb 2017, 1:32 p.m.
3 patients on OMIM with biallelic mutations. One is a -8 splicing mutation.Created: 22 Feb 2017, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group E 600901
Publications
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for FANCE were set to Fanconi anemia, complementation group E, 600901
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCE were set to Fanconi anemia, complementation group E 600901
Publications for FANCE were set to 7662964; 9382107; 9147877; 10205272
FANCE was added to Radial dysplasiapanel. Sources: Expert list
FANCE was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCE was set to BIALLELIC, autosomal or pseudoautosomal
FANCE was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCE was added to Radial dysplasiapanel. Source: UKGTN
FANCE was created by rfoulger
FANCE was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing