Limb disordersGene: FANCL
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.
Created: 11 May 2017, 9:50 a.m.
Comment when marking as ready: Sufficient evidence
Created: 28 Feb 2017, 1:38 p.m.
4 cases on OMIM
Created: 22 Feb 2017, 4:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Fanconi anemia, complementation group L 614083
Helen Brittain: 4 cases on OMIM
Source Expert Review Green was added to FANCL. Mode of inheritance for gene FANCL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group L, 614083 for gene: FANCL Publications for gene FANCL were changed from to 25754594; 12973351; 19405097; 12724401
FANCL was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
FANCL was created by Ellen McDonagh