LAMTOR2

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
OMIM: 610389, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green LAMTOR2 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure
  • Congenital neutropenia
  • Congenital defects of phagocyte number or function
  • Primary immunodeficiency syndrome due to p14 deficiency
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798
Green LAMTOR2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798
  • Congenital neutropenia
  • Primary immunodeficiency syndrome due to p14 deficiency
  • Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure
  • Congenital defects of phagocyte number or function
Red LAMTOR2 in Cytopenia - NOT Fanconi anaemia


Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798
Green LAMTOR2 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798