PanelApp (staging)
  1. Genes and Genomic Entities
  2. ACTG2

ACTG2

actin, gamma 2, smooth muscle, enteric
OMIM: 102545, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ACTG2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.145

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Visceral myopathy, MIM# 155310

    Green ACTG2 in Mendeliome


    Version 1.2302

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Visceral myopathy, MIM#155310
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431

    Green ACTG2 in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Visceral myopathy, 155310
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431

    Green ACTG2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome

    Green ACTG2 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431

    Red ACTG2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Visceral myopathy, MIM#155310
    • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431