Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- Eligibility statement prior genetic testing
- UKGTN
Phenotypes
- Striate keratoderma with woolly hair
- Cardiomyopathy, dilated, 1I
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Myopathy, myofibrillar 1, 601419
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Myopathy, myofibrillar, 1 601419
|
Version 3.28
Latest signed off version: v3.2
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Striate keratoderma with woolly hair
- Cardiomyopathy, dilated, 1I
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Myopathy, myofibrillar, 1, 601419
- Muscular dystrophy, limb-girdle, type 2R
- Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
- Myopathy, myofibrillar 1, 601419
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- South West GLH
- Expert list
Phenotypes
- Desminopathy-associated AV conduction block
- atrioventricular block (disease), MONDO:0000465
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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
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert list
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- South West GLH
- London South GLH
- Expert Review Green
- UKGTN
- Expert list
Phenotypes
- Cardiomyopathy, dilated, 1I (604765)
- Myopathy, myofibrillar, 1 (601419)
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
|
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
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
- Cardiomyopathy, dilated, 1I,
- Cardiomyopathy, dilated, 1I, (604765)
- Myopathy, myofibrillar, 1 (601419)
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
Phenotypes
- myofibrillar myopathy
- Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325
- Myofibrillar Myopathy, Dominant
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Myopathy, myofibrillar, 1, OMIM:601419
- Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy, limb-girdle, type 2R, 615325
- myofibrillar myopathy
- cardiomyopathy
- limb girdle muscular dystrophy
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
- Myopathy, myofibrillar, 1 (601419)
- Cardiomyopathy, dilated, 1I, (604765)
- Cardiomyopathy, dilated, 1I,
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- Expert Review Green
Phenotypes
- Cardiomyopathy, dilated, 1I,
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Myopathy, myofibrillar, 1, 601419
- Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
- Cardiomyopathy, dilated, 1I, 604765
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