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 Severe insulin resistance and lipodystrophy syndromes


Level 2: Endocrinology
Version 5.1
Latest signed off version: v5.0 (6 May 2026)

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 9.9
Latest signed off version: v9.0 (6 May 2026)

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 7.10
    Latest signed off version: v7.0 (6 May 2026)

    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 2.1
    Latest signed off version: v2.0 (6 May 2026)

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