STAC3

SH3 and cysteine rich domain 3
OMIM: 615521, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green STAC3 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, congenital, Baily-Bloch, 255995
Green STAC3 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myopathy, congenital, Baily-Bloch, OMIM:255995
    Green STAC3 in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Myopathy, congenital, Baily-Bloch, OMIM:255995
    • Bailey-Bloch congenital myopathy, MONDO:0009722
    Green STAC3 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995
    Green STAC3 in Malignant hyperthermia


    Level 2: Neurology
    Version 1.5
    Latest signed off version: v1.0 (30 Nov 2022)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia
    • Myopathy, congenital, Baily-Bloch, OMIM:255995