Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: BRCA1

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Limited evidence. Action taken: Demoted BRCA1 gene rating from Amber to Red.
Created: 24 Mar 2019, 9:25 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for INTELLECTUAL DISABILITY.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for INTELLECTUAL DISABILITY
Created: 6 Dec 2018, 10:07 a.m.

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to BRCA1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to BRCA1. 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: BRCA1 was added gene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY