1. Genes and Genomic Entities
  2. MTX2

MTX2

metaxin 2
OMIM: 608555, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green MTX2 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Mandibuloacral dysplasia
    • lipodystrophy
    • arterial calcification
    • severe hypertension
    Green MTX2 in Lipodystrophy - childhood onset


    Version 4.50
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mandibuloacral dysplasia
    • lipodystrophy
    • arterial calcification
    Green MTX2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Skeletal dysplasia
    • Mandibuloacral dysplasia
    • lipodystrophy
    • arterial calcification
    • Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
    Green MTX2 in Growth failure in early childhood


    Version 3.88
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Mandibuloacral dysplasia progeroid syndrome, OMIM:619127