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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4
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review
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Not set
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Sources
- Expert Review Red
- Expert list
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- South West GLH
- Literature
Phenotypes
- Hypertrophic cardiomyopathy
- Left ventricular non-compaction
- Catecholaminergic polymorphic ventricular tachycardia
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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
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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, 2, OMIM:611938
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
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Version 3.89
Latest signed off version: v3.24
(15 May 2023)
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938
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