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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 3.8
Latest signed off version: v3.7
(1 May 2024)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441
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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:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Expert list
Phenotypes
- Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441
Tags
- Q2_23_promote_green
- Q2_23_NHS_review
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Version 0.230
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441
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