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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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.

PMID 33868155, additional report of affected male, with similar deletion.

No reports of SNVs identified, including in ClinVar.
Created: 15 Jul 2024, 3:23 a.m. | Last Modified: 15 Jul 2024, 3:25 a.m.
Panel Version: 0.38

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

Publications

Created: 15 Jul 2024, 3:23 a.m.
Last Modified: 15 Jul 2024, 3:25 a.m.
Panel version: 0.38

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
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
OMIM
300617
Clinvar variants
Variants in BRCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brcc3 has been classified as Red List (Low Evidence).

15 Jul 2024, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRCC3 were set to 21596366

18 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRCC3 was added gene: BRCC3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: BRCC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: BRCC3 were set to 21596366 Phenotypes for gene: BRCC3 were set to Moyamoya disease