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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.9
Latest signed off version: v4.8
(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
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Sources
- South West GLH
- Radboud University Medical Center, Nijmegen
Phenotypes
- Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Nonsyndromic Hearing Loss, Dominant
- Deafness, autosomal dominant 22, 606346
- Nonsyndromic Hearing Loss, Recessive
- #606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
- #607821:Deafness, autosomal recessive 37
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346
- Deafness, autosomal dominant 22, 606346
- Deafness, autosomal recessive 37, 607821
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