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This Panel is marked as Internal

Newborns main panel
Gene: BRCA1

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 35373906 - 1 case - child reported and reference 10 previously reported cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Heterozygous LOF variants in BRCA1 are associated with HBOC; biallelic LOF are associated with Fanconi anaemia. For newborns, we are including AR disease and NOT AD.
Created: 10 Mar 2023, 11:03 a.m. | Last Modified: 10 Mar 2023, 11:03 a.m.

Panel Version: 0.41

Created: 10 Mar 2023, 11:03 a.m.
Last Modified: 10 Mar 2023, 11:03 a.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Fanconi anemia, complementation group S

OMIM

Clinvar variants

Variants in BRCA1

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to BRCA1. Added phenotypes Fanconi anemia, complementation group S for gene: BRCA1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group S for gene: BRCA1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group S for gene: BRCA1

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: brca1 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene BRCA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group S for gene: BRCA1

5 May 2023, Gel status: 0

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to BRCA1. Added phenotypes Fanconi anemia, complementation group S for gene: BRCA1 Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group S for gene: BRCA1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: BRCA1 was added gene: BRCA1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: BRCA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal