Radial dysplasia
Gene: 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 FACreated: 28 Feb 2017, 1:15 p.m.
Sufficient evidence that biallelic mutations cause FACreated: 20 Feb 2017, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J 609054
Publications
Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054 to Fanconi anemia, complementation group J, OMIM:609054
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for BRIP1 were set to Fanconi anemia, complementation group J, 609054
This gene has been classified as Green List (High Evidence).
Phenotypes for BRIP1 were set to Fanconi anemia, complementation group J 609054
Publications for BRIP1 were set to 14630800; 16116424; 16153896; 16116423
BRIP1 was added to Radial dysplasiapanel. Sources: Expert list
BRIP1 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
BRIP1 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
BRIP1 was added to Radial dysplasiapanel. Source: UKGTN
BRIP1 was created by rfoulger
BRIP1 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing