Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15
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review
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Unknown
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Sources
- Expert Review Red
- Literature
Phenotypes
- Sudden death
- cardiac arrhythmia
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Version 3.10
Latest signed off version: v3.1
(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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- South West GLH
- London South GLH
- North West GLH
- UKGTN
- Brugada syndrome (Version 1.7)
- Literature
Phenotypes
- short qt
- Brugada syndrome
- aborted sudden death
- Short QT syndrome 6
Tags
|
Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 3.8
Latest signed off version: v3.2
(22 Mar 2023)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
|
review
|
Unknown
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Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Red
- Expert list
Phenotypes
- Brugada syndrome, MONDO:0015263
|
Version 0.36
|
review
|
Not set
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Sources
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- CACNA2D1-related neurodevelopmental disorder
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Early onset developmental epilepsy
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Other
- Literature
Phenotypes
- Abnormal muscle tone
- Feeding difficulties
- Global developmental delay
- Intellectual disability
- Seizures
- Microcephaly
- Abnormality of the corpus callosum
- Cerebral atrophy
- Abnormality of movement
- Cortical visual impairment
- Pain insensitivity
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