Pigmentary skin disorders

Gene: BRCA1

Green List (high evidence)

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 26 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

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

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S for gene: BRCA1 Publications for gene BRCA1 were changed from to 29712865

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to BRCA1. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

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