PanelApp
  1. Genes and Genomic Entities
  2. MTX2

MTX2

metaxin 2
OMIM: 608555, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MTX2 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification

Green MTX2 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification

Green MTX2 in Mendeliome


Version 1.4216

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification

Green MTX2 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.18

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
    • Mandibuloacral dysplasia
    • lipodystrophy
    • arterial calcification

    Green MTX2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 1.12

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127

    Green MTX2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.402

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
    • Mandibuloacral dysplasia
    • lipodystrophy
    • arterial calcification

    Green MTX2 in Growth failure


    Version 1.95

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Mandibuloacral dysplasia
    • growth retardation
    • arterial calcification
    • lipodystrophy

    Green MTX2 in Fetal anomalies


    Version 1.522

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mandibuloacral dysplasia progeroid syndrome - MIM#619127