Version 0.149
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review
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MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
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Sources
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
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
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Sources
- NHS GMS
- Expert Review Green
- Expert review
Phenotypes
- non-syndromic congeital hyperinsulinism
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- CACNA1C-related disorder
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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
- Expert Review Green
- South West GLH
- Literature
Phenotypes
- Hypertrophic cardiomyopathy
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- Long QT syndrome 8, OMIM:618447
- long qt syndrome 8, MONDO:0032756
- Brugada syndrome 3, OMIM:611875
- Brugada syndrome 3, MONDO:0012742
- CACNA1C-related disorder
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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
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- West Midlands, Oxford and Wessex GLH
- South West GLH
- London South GLH
- North West GLH
- Brugada syndrome (Version 1.7)
- UKGTN
- Expert Review Green
- Long QT syndrome (Version 1.5)
- Emory Genetics Laboratory
- Literature
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- Long QT syndrome 8, OMIM:618447
- long qt syndrome 8, MONDO:0032756
- Brugada syndrome 3, OMIM:611875
- Brugada syndrome 3, MONDO:0012742
- Short QT
- CACNA1C-related disorder
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Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 3.7
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
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
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- Long QT syndrome 8, OMIM:618447
- long qt syndrome 8, MONDO:0032756
- Brugada syndrome 3, OMIM:611875
- Brugada syndrome 3, MONDO:0012742
- CACNA1C-related disorder
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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
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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
- Expert Review Red
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Brugada syndrome 3, MONDO:0012742
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- Long QT syndrome 8, OMIM:618447
- long qt syndrome 8, MONDO:0032756
- Brugada syndrome 3, OMIM:611875
- Brugada syndrome 3, MONDO:0012742
- CACNA1C-related disorder
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- CACNA1C-related disorder
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Timothy syndrome OMIM:601005
- CACNA1C-related disorder
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- Long QT syndrome 8, OMIM:618447
- long qt syndrome 8, MONDO:0032756
- Brugada syndrome 3, OMIM:611875
- Brugada syndrome 3, MONDO:0012742
- CACNA1C-related disorder
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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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Timothy syndrome, OMIM:601005
- Timothy syndrome, MONDO:0010979
- Long QT syndrome 8, OMIM:618447
- long qt syndrome 8, MONDO:0032756
- Brugada syndrome 3, OMIM:611875
- Brugada syndrome 3, MONDO:0012742
- CACNA1C-related disorder
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Version 1.182
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Brugada syndrome 3, 611875
- Long QT syndrome 8, 618447
- Timothy syndrome, 601005
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