Pigmentary skin disordersGene: BRCA1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
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
Phenotypes for gene: BRCA1 were changed from FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S to Fanconi anemia, complementation group S, OMIM:617883
Added phenotypes FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S for gene: BRCA1 Publications for gene BRCA1 were changed from to 29712865
Source Expert Review Green was added to BRCA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: BRCA1 was added gene: BRCA1 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal