Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Left ventricular noncompaction 4
- Left Ventricular Noncompaction Cardiomyopathy
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Cardiomyopathy, familial hypertrophic, 11
- Atrial septal defect 5 (612794)
- Left ventricular noncompaction 4 (613424)
- Cardiomyopathy, hypertrophic, 11 (612098)
- Cardiomyopathy, dilated, 1R (613424)
- Hypertrophic Cardiomyopathy
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Atrial septal defect 5 (612794)
- Cardiomyopathy, hypertrophic, 11 (612098)
- Cardiomyopathy, dilated, 1R
- Left ventricular noncompaction 4 (613424)
- Cardiomyopathy, dilated, 1R (613424)
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Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Atrial septal defect 5, 612794
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- distal arthrogryposis, MONDO:0019942
Tags
|
Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Amber
- NHS GMS
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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, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- 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, hypertrophic, 11 (612098)
- Left ventricular noncompaction 4 (613424)
- Cardiomyopathy, dilated, 1R (613424)
- Cardiomyopathy, dilated, 1R
- Atrial septal defect 5 (612794)
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Atrial septal defect 5 612794
|
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 3.10
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- South West GLH
Phenotypes
- Atrial septal defect 5
- Cardiomyopathy, hypertrophic, 11
- Cardiomyopathy, dilated, 1R
- Left ventricular noncompaction 4
|
Version 3.47
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, NOT imprinted
|
Sources
- NHS GMS
- South West GLH
- London South GLH
- Expert Review Green
Phenotypes
- Hypertrophic Cardiomyopathy
- Cardiomyopathy, familial hypertrophic, 11
- Cardiomyopathy, dilated, 1R
- Left Ventricular Noncompaction Cardiomyopathy
- Left ventricular noncompaction 4
|
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
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Left ventricular noncompaction 4, 613424
- Atrial septal defect 5, 612794
- Cardiomyopathy, dilated, 1R, 613424
- Cardiomyopathy, hypertrophic, 11, 612098
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