Limb disordersGene: 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 phenotype
Created: 28 Feb 2017, 2:13 p.m.
4 individuals (3 families) in second PMID, phenotype of FA
Created: 22 Feb 2017, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Fanconi anemia, complementation group P 613951
Helen Brittain: 4 individuals (3 families) in
Source Expert Review Green was added to SLX4. Mode of inheritance for gene SLX4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4 Publications for gene SLX4 were changed from to 21240277; 21240275
SLX4 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
SLX4 was created by Ellen McDonagh