Limb disordersGene: 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 phenotype
Created: 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
Fanconi anemia, complementation group E 600901
Helen Brittain: 3 patients on OMIM with bialle
Source Expert Review Green was added to FANCE. Mode of inheritance for gene FANCE was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE Publications for gene FANCE were changed from to 9147877; 10205272; 7662964; 9382107
FANCE was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
FANCE was created by Ellen McDonagh