PanelApp (staging)
  1. Genes and Genomic Entities
  2. LAMTOR2

LAMTOR2

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
OMIM: 610389, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber LAMTOR2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798

Amber LAMTOR2 in Phagocyte Defects


Level 2: Immunological disorders
Version 1.33

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798

    Red LAMTOR2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798