Radial dysplasia
Gene: FANCA
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:38 a.m.
Comment when marking as ready: evidence for causation metCreated: 28 Feb 2017, 1:27 p.m.
Many cases. BiallelicCreated: 22 Feb 2017, 3 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group A 227650
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 FANCA were set to Fanconi anemia, complementation group A, 227650
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCA were set to Fanconi anemia, complementation group A 227650
Publications for FANCA were set to 8896563
FANCA was added to Radial dysplasiapanel. Sources: Expert list
FANCA was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCA was set to BIALLELIC, autosomal or pseudoautosomal
FANCA was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCA was added to Radial dysplasiapanel. Source: UKGTN
FANCA was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing
FANCA was created by rfoulger