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 1.20

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 2.23
    Latest signed off version: v2.4 (19 Feb 2020)

    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 2.211
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.109
    Latest signed off version: v1.4 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Mandibuloacral dysplasia
    • lipodystrophy
    • arterial calcification
    • growth retardation