Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cardiomyopathy, familial hypertrophic, 10
- Cardiomyopathy, familial hypertrophic, 10 (608758)
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- Oxford Medical Genetics Laboratory
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.36
Latest signed off version: v4.0
(22 Mar 2023)
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
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
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 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- South West GLH
- London South GLH
- Expert Review Green
Phenotypes
- Cardiomyopathy, familial hypertrophic, 10
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Version 3.83
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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