Radial dysplasia
Gene: FANCGComment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:47 a.m.
Comment when marking as ready: Sufficient evidence of causation for FA in biallelic casesCreated: 28 Feb 2017, 1:35 p.m.
Several mutations across a number of families reported. Biallelic.Created: 22 Feb 2017, 3:45 p.m.
Phenotypes
Fanconi anemia, complementation group G 614082
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 FANCG were set to Fanconi anemia, complementation group G, 614082
This gene has been classified as Green List (High Evidence).
Phenotypes for FANCG were set to Fanconi anemia, complementation group G 614082
Publications for FANCG were set to 9806548
FANCG was added to Radial dysplasiapanel. Sources: Expert list
FANCG was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FANCG was set to BIALLELIC, autosomal or pseudoautosomal
FANCG was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
FANCG was added to Radial dysplasiapanel. Source: UKGTN
FANCG was created by rfoulger
FANCG was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing