ELMO2:Ensemblv90

engulfment and cell motility 2
OMIM: 606421, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ELMO2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vascular malformation, primary intraosseous, MIM#606893

Green ELMO2 in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Royal Melbourne Hospital
    Phenotypes
    • Vascular malformation, primary intraosseous, MIM#606893

    Red ELMO2 in Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Vascular malformation, primary intraosseous, MIM# 606893

    Green ELMO2 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Vascular malformation, primary intraosseous, MIM#606893