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Cerebral vascular malformations

Gene: BRCC3

Red List (low evidence)
BRCC3 (BRCA1/BRCA2-containing complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000185515
EnsemblGeneIds (GRCh37): ENSG00000185515
OMIM: 300617, Gene2Phenotype
BRCC3 is in 1 panel

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Only whole gene deletions reported
Created: 8 Dec 2016, 2:36 p.m.
Only whole gene deletions reported
Created: 8 Dec 2016, 2:36 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Moyamoya disease 4 300845

Publications

Created: 8 Dec 2016, 2:36 p.m.

Panel version: 0.8

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
OMIM
300617
Clinvar variants
Variants in BRCC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to BRCC3.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BRCC3.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

14 Dec 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BRCC3 were set to 21596366

8 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCC3 was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BRCC3 was created by ellenmcdonagh