STRs in panel
Prev Next
Regions in panel
Prev Next

Additional findings health related - CNV analysis adult specific

Gene: BRCA1

Green List (high evidence)

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 27 panels

0 reviews

History Filter Activity

4 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRCA1 were changed from Adult only; Breast and ovarian cancer predisposition to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Adult only

20 Apr 2020, Gel status: 3

Set Phenotypes, Set transcript, Added Tag

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BRCA1 were changed from Adult only; ENST00000357654.8; Breast and ovarian cancer predisposition to Adult only; Breast and ovarian cancer predisposition Transcript for gene BRCA1 was changed from None to ENST00000357654.8; NM_007294.3 Tag adult-onset tag was added to BRCA1.

20 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: BRCA1 was added gene: BRCA1 was added to Additional findings health related adult additional CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRCA1 were set to Adult only; ENST00000357654.8; Breast and ovarian cancer predisposition