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Fetal anomalies

Gene: BRCA2

Green List (high evidence)

BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 32 panels

2 reviews

Lyn Chitty (Great Ormond Street NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating from Amber to Green following advice from Lyn Chitty (Professor of Genetics and Fetal Medicine, Great Ormond Street), Richard Scott and Anna de Burca (meeting at Great Ormond Street, February 27th 2019). Fanconi Anemia phenotype is fetally-relevant and BRCA2 should be on this panel with a BIALLELIC mode of inheritance (therefore excluding monoallelic variants associated with cancers).
Created: 28 Feb 2019, 8:59 a.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
Created: 6 Dec 2018, 10:07 a.m.

History Filter Activity

28 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: brca2 has been classified as Green List (High Evidence).

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to BRCA2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: BRCA2 was added gene: BRCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1