Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.2
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Ventricular fibrillation, familial, 1, 603829
- Ventricular fibrillation, familial, 1,
- Paroxysmal Familial Ventricular Fibrillation
|
Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Nonimmune hydrops fetalis
|
Level 2: Viral research
Version 1.141
|
review
|
Not set
|
Sources
|
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
- Expert Review Green
- South West GLH
- London South GLH
- Wessex and West Midlands GLH
- Expert list
Phenotypes
- Heart block, progressive, OMIM:113900
- Heart block, progressive, type IA, OMIM:113900
|
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, imprinted status unknown
|
Sources
- South West GLH
- North West GLH
- Expert Review Amber
- Brugada syndrome (Version 1.7)
- Long QT syndrome (Version 1.5)
- Emory Genetics Laboratory
- Literature
Phenotypes
- Ventricular fibrillation, familial, 1 (603829)
- Brugada syndrome 1 (601144)
- {Sudden infant death syndrome, susceptibility to} (272120)
- Brugada syndrome 1 601144
- Heart block, progressive, type IA (113900)
- Heart block, nonprogressive (113900)
- Sick sinus syndrome 1 (608567)
- Long QT syndrome-3 (603830)
- Cardiomyopathy, dilated, 1E (601154)
- Atrial fibrillation, familial, 10 (614022)
Tags
|
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
- South West GLH
- London South GLH
- Literature
Phenotypes
- Arrhythmogenic right ventricular cardiomyopathy
- Long QT syndrome
- Brugada syndrome
- Dilated cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
|
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, imprinted status unknown
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Ventricular fibrillation, familial, 1 (603829)
- Brugada syndrome 1 (601144)
- Heart block, nonprogressive (113900)
- Heart block, progressive, type IA (113900)
- {Sudden infant death syndrome, susceptibility to} (272120)
- Sick sinus syndrome 1 (608567)
- Long QT syndrome-3
- Long QT syndrome-3 (603830)
- Cardiomyopathy, dilated, 1E (601154)
- Atrial fibrillation, familial, 10 (614022)
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Cardiomyopathy, dilated, 1E
|
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, imprinted status unknown
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Brugada syndrome 1, 601144
- Brugada syndrome 1, MONDO:0011001
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.22
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 Green
- South West GLH
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- North West GLH
- Expert list
- Emory Genetics Laboratory
- South West GLH
- London South GLH
- North West GLH
Phenotypes
- Cardiomyopathy, dilated, 1E
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
|
Version 3.46
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
- South West GLH
- Expert Review Green
Phenotypes
- Dilated cardiomyopathy
- Long QT syndrome
- Brugada syndrome
- Cardiomyopathy, dilated, 1E
- Arrhythmogenic right ventricular cardiomyopathy
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
|