Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
Phenotypes
- Naxos disease, OMIM:601214
- Palmoplantar keratoderma, keratoderma with woolly hair, generalised skin fragility, epidermolysis bullosa
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Version 3.28
Latest signed off version: v3.2
(22 Mar 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Naxos disease, OMIM:601214
|
Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
Phenotypes
- Naxos disease, OMIM:601214
- Generalised skin fragility, epidermolysis bullosa
|
Version 2.7
Latest signed off version: v2.2
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Naxos disease, OMIM:601214
- Generalised skin fragility, epidermolysis bullosa
|
Version 3.25
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Naxos disease, OMIM:601214
- Palmoplantar keratoderma, keratoderma with woolly hair
Tags
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 3.11
Latest signed off version: v3.10
(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
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Naxos disease, OMIM:601214
- Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- South West GLH
- London South GLH
- Expert list
Phenotypes
- Naxos disease, OMIM:601214
- Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
|
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
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert List
- Expert Review Green
- South West GLH
- London South GLH
- North West GLH
Phenotypes
- Naxos disease, OMIM:601214
- Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- Expert Review Green
Phenotypes
- Naxos disease, OMIM:601214
- Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
|
Version 4.9
Latest signed off version: v4.0
(1 May 2024)
|
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
- Arrhythmogenic right ventricular dysplasia 12, 611528
- Naxos disease, 601214
|