Limb disordersGene: BRIP1
Comment when marking as ready: In biallelic form, causes FA. Therefore radial dysplasia is an associated phenotypic feature.
Created: 11 May 2017, 9:36 a.m.
Comment when marking as ready: Sufficient evidence of causation for FA
Created: 28 Feb 2017, 1:15 p.m.
Sufficient evidence that biallelic mutations cause FA
Created: 20 Feb 2017, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Fanconi anemia, complementation group J 609054
Helen Brittain: Sufficient evidence that biall
Source Expert Review Green was added to BRIP1. Mode of inheritance for gene BRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1 Publications for gene BRIP1 were changed from to 16153896; 16116424; 14630800; 16116423
BRIP1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
BRIP1 was created by Ellen McDonagh