Version 2.6
Latest signed off version: v2.2
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Heart conduction disease, MONDO:0000992
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- North West GLH
- Brugada syndrome (Version 1.7)
- Long QT syndrome (Version 1.5)
- Emory Genetics Laboratory
Phenotypes
- Long QT syndrome 4 (600919)
- Long QT syndrome 4 600919
- Cardiac arrhythmia, ankyrin-B-related (600919)
- Cardiac arrhythmia, ankyrin-B-related 600919
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 3.9
Latest signed off version: v3.5
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- South West GLH
- London South GLH
- North West GLH
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Long QT syndrome-4
- Cardiac arrhythmia, ankyrin-B-related (600919)
- Long QT syndrome 4 (600919)
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- North West GLH
- Expert Review Red
- Expert list
Phenotypes
- Brugada syndrome, MONDO:0015263
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- Expert Review Red
- Expert list
Phenotypes
- catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
|
Version 0.36
|
review
|
Not set
|
Sources
- Expert Review Green
- SFARI
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.20
Latest signed off version: v2.8
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- ANK2-related neurodevelopmental disorder
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- neurodevelopmental disorder, MONDO:0700092
- epilepsy, MONDO:0005027
Tags
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Complex neurodevelopmental disorder, MONDO:0100038
|
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
- Expert Review Amber
- NHS GMS
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cardiac arrhythmias
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Long QT syndrome 4, 600919
- Cardiac arrhythmia, ankyrin-B-related, 600919
|