Pigmentary skin disordersGene: BRIP1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Added phenotypes FANCJ; FANCONI ANEMIA, COMPLEMENTATION GROUP J for gene: BRIP1 Publications for gene BRIP1 were changed from to 16116424
Source Expert Review Green was added to BRIP1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: BRIP1 was added gene: BRIP1 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal