Radial dysplasia
Gene: 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 evidenceCreated: 28 Feb 2017, 1:38 p.m.
4 cases on OMIMCreated: 22 Feb 2017, 4:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group L 614083
Publications
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for FANCL were set to Fanconi anemia, complementation group L, 614083
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCL were set to Fanconi anemia, complementation group L 614083
Publications for FANCL were set to 12973351; 19405097; 12724401; 25754594
FANCL was added to Radial dysplasiapanel. Sources: Expert list
FANCL was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCL was set to BIALLELIC, autosomal or pseudoautosomal
FANCL was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCL was added to Radial dysplasiapanel. Source: UKGTN
FANCL was created by rfoulger
FANCL was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing