Radial dysplasia
Gene: FANCD2
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:43 a.m.
3 families in OMIM. Biallelic mutationsCreated: 22 Feb 2017, 3:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D2 227646
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 FANCD2 were set to Fanconi anemia, complementation group D2, 227646
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCD2 were set to Fanconi anemia, complementation group D2 227646
Publications for FANCD2 were set to 11239454
FANCD2 was added to Radial dysplasiapanel. Sources: Expert list
FANCD2 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
FANCD2 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCD2 was added to Radial dysplasiapanel. Source: UKGTN
FANCD2 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing
FANCD2 was created by rfoulger