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Cytopenias and congenital anaemias

Gene: BRCA1

Amber List (moderate evidence)

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

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Amber at present. One report in humans in biallelic form.
Created: 10 Mar 2017, 1:13 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 28122244 - mice homozygous for a null Brca1 mutation in the embryonic hematopoietic system developed hematopoietic defects in early adulthood that included reduced hematopoietic stem cells. PMID: 26644450 - mouse model. PMID: 25472942 - one patient reported with biallelic mutations in BRCA1 with congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.
Created: 1 Mar 2017, 4:50 p.m.
Comment on list classification: Unsure due to incidental findings.
Created: 1 Mar 2017, 4:10 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Mar 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BRCA1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BRCA1 were set to 25472942; 28122244; 26644450;25472942

1 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BRCA1 were set to 25472942; 28122244;26644450

1 Mar 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BRCA1 were set to 25472942;28122244

1 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

BRCA1 was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

BRCA1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)