Radial dysplasia
Gene: SLX4
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 10:06 a.m.
Comment when marking as ready: Sufficient evidence of causation for FA phenotypeCreated: 28 Feb 2017, 2:13 p.m.
4 individuals (3 families) in second PMID, phenotype of FACreated: 22 Feb 2017, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group P 613951
Publications
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for SLX4 were set to Fanconi anemia, complementation group P, 613951
This gene has been classified as Green List (High Evidence).
Phenotypes for SLX4 were set to Fanconi anemia, complementation group P 613951
Publications for SLX4 were set to 21240275; 21240277
SLX4 was added to Radial dysplasiapanel. Sources: Expert list
SLX4 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
SLX4 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
SLX4 was added to Radial dysplasiapanel. Source: UKGTN
SLX4 was created by rfoulger
SLX4 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing