STAC3

Green STAC3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Expert

Phenotypes

• Myopathy, congenital, Baily-Bloch, 255995

Green STAC3 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

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

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

Sources

• Expert Review Green
• Literature

Phenotypes

• Myopathy, congenital, Baily-Bloch, OMIM:255995
• Bailey-Bloch congenital myopathy, MONDO:0009722

Green STAC3 in DDG2P

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

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995

Green STAC3 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Myopathy, congenital, Baily-Bloch, 255995

Green STAC3 in Malignant hyperthermia

Version 1.3
Latest signed off version: v1.0 (30 Nov 2022)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia
• Myopathy, congenital, Baily-Bloch, OMIM:255995