ACTG2

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

9 panels

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

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.30

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 1.124

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


Level 2: Respiratory
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

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 1.181

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 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
  • 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 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

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


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 Green
    • Other
    Phenotypes
    • CAKUT
    • Megacystis-microcolon intestinal hypoperistalsis syndrome
    • Visceral myopathy, 155310
    • Berdon syndrome
    Green ACTG2 in Paediatric pseudo-obstruction syndrome


    Level 2: Gastrohepatology
    Version 2.5
    Latest signed off version: v2.0 (30 Apr 2025)

    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
    Green ACTG2 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431
    • Visceral myopathy 1, OMIM:155310
    • Berdon syndrome