HMGA2

high mobility group AT-hook 2
OMIM: 600698, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red HMGA2 in Multiple lipomas


Version 1.2

review Unknown
Sources
  • Literature
Phenotypes
  • myolipoma of soft tissue
Green HMGA2 in Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • Silver-Russell syndrome 5, OMIM:618908
  • Silver-Russell syndrome 5, MONDO:0020795
Green HMGA2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Silver-Russell syndrome 5, OMIM:618908
  • Silver-Russell syndrome 5, MONDO:0020795
Green HMGA2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0020795
    • HMGA2-related Silver-Russell-like syndrome
    Amber HMGA2 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Silver-Russell syndrome 5, OMIM:618908
    Tags
    • Q1_25_ NHS_review
    • Q1_25_ promote_green
    Green HMGA2 in Monogenic short stature


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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Silver-Russell syndrome 5, OMIM:618908