Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: BRCA1

Red List (low evidence)

BRCA1 (BRCA1, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 21 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Phenotype of intellecutal disability and mode of inheritance from Gen2Phen. Neuronal migration defect reported in BRCA1 variant carrying male, suggestion that phenotype developed as a result of a second (somatic) pathogenic variant. Mental retardation also reported in two females with complex phenotypes suggestive of Fanconi anemia
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
INTELLECTUAL DISABILITY

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 5:12 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_201507; ddg2p_201507_conf; UKGTN_v12; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from green to red due to complications in reporting variants within this gene, with agreement with members of the V&F GeCIP domain.
Created: 5 Apr 2016, 8:36 a.m.

Lu Raymond (university of cambridge )

Green List (high evidence)

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene BRCA1 was set to ['23269703', ' 25472942', ' 12624153 ']

5 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA1 was added to Intellectual disabilitypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BRCA1 was created by ellenmcdonagh