Cerebral vascular malformations
Gene: BRCC3
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
Phenotypes for gene: BRCC3 were changed from Moyamoya disease to MoyaMoya Disease, syndromic, MONDO:0016820
Mode of inheritance for gene: BRCC3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: brcc3 has been classified as Amber List (Moderate Evidence).
Tag SV/CNV tag was added to gene: BRCC3.
Gene: brcc3 has been classified as Red List (Low Evidence).
Publications for gene: BRCC3 were set to 21596366
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