Version 3.12
Latest signed off version: v3.11
(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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- North West GLH
- Expert Review Red
- Brugada syndrome (Version 1.7)
- Literature
Phenotypes
- J wave syndrome
- short QT
- Episodic pain syndrome, familial, 2 (615551)
- sudden death
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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 3.10
Latest signed off version: v3.9
(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
|
Unknown
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Sources
- Expert Review Red
- South West GLH
- London South GLH
- North West GLH
- Oxford Medical Genetics Laboratory
Phenotypes
- Brugada syndrome, MONDO:0015263
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Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Familial episodic pain syndrome-2
- Episodic pain syndrome, familial, 2, 615551
- Painful small fibre neuropathy
- SFN
- Small fibre neuropathy
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Painful small fibre neuropathy
- SFN
- Small fibre neuropathy
- Familial episodic pain syndrome-2
- Episodic pain syndrome, familial, 2, 615551
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Episodic pain syndrome, familial, 2, 615551
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Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Episodic pain syndrome, familial, 2, 615551
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Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Colon sensory neurons activation
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