Additional findings health related

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

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Clinically relevant transcript NM_007294.3
Created: 21 May 2018, 3:51 p.m.

History Filter Activity

20 Apr 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: BRCA1 were changed from ENST00000357654.8; Breast and ovarian cancer predisposition; Adult only to Breast and ovarian cancer predisposition; Adult only

27 Jan 2020, Gel status: 3

Set transcript

Catherine Snow (Genomics England)

Transcript for gene BRCA1 was changed from ENST00000357654.8 to ENST00000357654.8; NM_007294.3

19 Nov 2019, Gel status: 3

Removed Source, Removed Source, Added New Source, Set transcript

Ellen McDonagh (Genomics England Curator)

Source Additional Findings was removed from BRCA1. Source ACMG was removed from BRCA1. Source Expert list was added to BRCA1. Transcript for gene BRCA1 was changed from None to ENST00000357654.8

10 Oct 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: BRCA1 were changed from NM_007294.3; Breast and ovarian cancer predisposition; Adult only to ENST00000357654.8; Breast and ovarian cancer predisposition; Adult only

21 May 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BRCA1 were set to NM_007294.3; Breast and ovarian cancer predisposition; Adult only

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BRCA1 were set to Breast and ovarian cancer predisposition; Adult only

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA1 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BRCA1 was created by Ellen McDonagh