MTX2

metaxin 2
OMIM: 608555, Gene2Phenotype

5 panels

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

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.23

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


Level 2: Endocrinology
Version 4.67
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 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

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
    Red MTX2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
    Green MTX2 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

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