Radial dysplasia
Gene: FANCI
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:48 a.m.
Comment when marking as ready: Sufficient evidenceCreated: 28 Feb 2017, 1:36 p.m.
3 cases with biallelic mutations in OMIMCreated: 22 Feb 2017, 3:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group I 609053
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 FANCI were set to Fanconi anemia, complementation group I, 609053
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCI were set to Fanconi anemia, complementation group I 609053
Publications for FANCI were set to 17452773; 11239453
FANCI was added to Radial dysplasiapanel. Sources: Expert list
FANCI was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCI was set to BIALLELIC, autosomal or pseudoautosomal
FANCI was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCI was added to Radial dysplasiapanel. Source: UKGTN
FANCI was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing
FANCI was created by rfoulger