Version 0.149
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review
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MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
|
Sources
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Wolff-Parkinson-White syndrome, 194200
- Cardiomyopathy, familial hypertrophic 6, 600858
- Glycogen storage disease of heart, lethal congenital, 261740
- Glycogen Storage Disease of Heart, Lethal Congenital
- Glycogen Storage Disorders- Muscle
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Literature
Phenotypes
- Cardiomyopathy, hypertrophic 6 600858
- Glycogen storage disease of heart, lethal congenital 261740
- Wolff-Parkinson-White syndrome 194200
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Cardiomyopathy, hypertrophic 6, 600858
- Glycogen storage disease of heart, lethal congenital, 261740
- Wolff-Parkinson-White syndrome, 194200
|
Version 2.4
Latest signed off version: v2.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
Phenotypes
- Glycogen storage disease of heart, lethal congenital 261740
|
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
- London South GLH
- Expert list
Phenotypes
- Wolff-Parkinson-White syndrome, OMIM:194200
|
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
|
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
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Wolff-Parkinson-White syndrome (194200)
- syndromic HCM
- Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
- Cardiomyopathy, familial hypertrophic 6,
- Cardiomyopathy, familial hypertrophic 6 (600858)
- Glycogen storage disease of heart, lethal congenital (261740)
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- Oxford Medical Genetics Laboratory
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Literature
Phenotypes
- Cardiomyopathy, hypertrophic 6 600858
- Glycogen storage disease of heart, lethal congenital 261740
- Wolff-Parkinson-White syndrome 194200
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Cardiomyopathy, hypertrophic 6, 600858
- Glycogen storage disease of heart, lethal congenital, 261740
- Wolff-Parkinson-White syndrome, 194200
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Cardiomyopathy, hypertrophic 6, OMIM:600858
- Hypertrophic cardiomyopathy 6, MONDO:0010946
- Glycogen storage disease of heart, lethal congenital, OMIM:261740
- Lethal congenital glycogen storage disease of heart, MONDO:0009867
|
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 3.47
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
- Expert Review Green
- London South GLHSouth West GLH
Phenotypes
- Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
- Cardiomyopathy, familial hypertrophic 6,
- syndromic HCM
|
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 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Glycogen storage disease of heart, lethal congenital, 261740
- Cardiomyopathy, hypertrophic 6, 600858
- Wolff-Parkinson-White syndrome, 194200
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Cardiomyopathy, hypertrophic 6, OMIM:600858
- Glycogen storage disease of heart, lethal congenital, OMIM:261740
|