Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- London South GLH
- North West GLH
- Wessex and West Midlands GLH
- Expert Review Green
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Cardiomyopathy, dilated, 1J (605362)
- Deafness, autosomal dominant 10 (601316)
- Cardiomyopathy, dilated, 1J
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.25
Latest signed off version: v2.23
(1 May 2024)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- UKGTN
- South West GLH
- Radboud University Medical Center, Nijmegen
- Wessex and West Midlands GLH
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- North West GLH
- Expert list
- South West GLH
- London South GLH
- North West GLH
- Wessex and West Midlands GLH
Phenotypes
- ?Cardiomyopathy, dilated, 1J (605362)
- Cardiomyopathy, dilated, 1J
- Deafness, autosomal dominant 10 (601316)
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- hearing loss
- Nonsyndromic Hearing Loss, Dominant
- Deafness, autosomal dominant 10, 601316
- Cardiomyopathy, dilated, 1J, 605362
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- NHS GMS
- South West GLH
- London South GLH
Phenotypes
- Cardiomyopathy, dilated, 1J
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Cardiomyopathy, dilated, 1J, 605362
- Deafness, autosomal dominant 10, 601316
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