BRCC3:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber BRCC3 in Mendeliome


Version 1.3802

1 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
  • Vascular Malformations SuperPanel
  • 1 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

    Amber BRCC3 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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