BRCC3

BRCA1/BRCA2-containing complex subunit 3
OMIM: 300617, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber BRCC3 in Mendeliome


Version 1.2656

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • MoyaMoya Disease, syndromic, MONDO:0016820
Tags
  • SV/CNV

Amber BRCC3 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.9

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • MoyaMoya Disease, syndromic, MONDO:0016820
    Tags
    • SV/CNV