ACTG2

actin, gamma 2, smooth muscle, enteric
OMIM: 102545, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green ACTG2 in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Visceral myopathy 155310
Green ACTG2 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
    Amber ACTG2 in Laterality disorders and isomerism


    Version 3.10
    Latest signed off version: v3.9 (1 May 2024)

    review Not set
    Sources
    • Expert Review Amber
    • NHS GMS
    Green ACTG2 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.177

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Megacystis-microcolon intestinal hypoperistalsis syndrome
    • visceral myopathy
    • Berdon syndrome
    Green ACTG2 in Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Berdon syndrome
    • visceral myopathy
    • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
    • Megacystis-microcolon intestinal hypoperistalsis syndrome
    Green ACTG2 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Visceral myopathy 155310
    • Fetal Megacystis
    No list ACTG2 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Baraitser-Winter syndrome 2, MIM# 614583
    Green ACTG2 in Paediatric disorders - additional genes


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • CAKUT
    • Megacystis-microcolon intestinal hypoperistalsis syndrome
    • Visceral myopathy, 155310
    • Berdon syndrome
    Red ACTG2 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • MIM 155310
    • Congenital or cystic renal disease
    • Visceral myopathy
    Green ACTG2 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Visceral myopathy, 155310
    Green ACTG2 in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431
    • Visceral myopathy 1, OMIM:155310