PanelApp (stage)
  1. Genes and Genomic Entities
  2. STAC3

STAC3

SH3 and cysteine rich domain 3
OMIM: 615521, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green STAC3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, congenital, Baily-Bloch, MIM# 255995

    Green STAC3 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, congenital, Baily-Bloch, MIM# 255995
    Tags
    • founder

    Green STAC3 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    Phenotypes
    • Congenital myopathy 13 (MIM#255995)

    Red STAC3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myopathy, congenital, Baily-Bloch
    • OMIM #255995

    Green STAC3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Myopathy, congenital, Baily-Bloch, MIM# 255995

    Green STAC3 in Malignant Hyperthermia Susceptibility


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.8

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, congenital, Baily-Bloch MIM#255995

    Green STAC3 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Expert list
    Phenotypes
    • Bailey-Bloch congenital myopathy, MONDO:0009722
    • Myopathy, congenital, Baily-Bloch, OMIM:255995

    Red STAC3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Myopathy, congenital, Baily-Bloch, MIM# 255995