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Additional findings health related - CNV analysis adult specific

Gene: BRCA2

Green List (high evidence)

BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 35 panels

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History Filter Activity

20 Apr 2020, Gel status: 3

Set transcript, Added Tag

Eleanor Williams (Genomics England Curator)

Transcript for gene BRCA2 was changed from None to ENST00000544455.5; NM_000059.3 Tag adult-onset tag was added to BRCA2.

20 Apr 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: BRCA2 was added gene: BRCA2 was added to Additional findings health related adult additional CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRCA2 were set to Adult only; Breast and ovarian cancer predisposition