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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Charcot-Marie-Tooth disease, type 4C, OMIM:601596
- Mononeuropathy of the median nerve, mild, OMIM:613353
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Charcot-Marie-Tooth disease, type 4C, 601596
- Mononeuropathy of the median nerve, mild, 613353
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Charcot-Marie-Tooth disease, type 4C, OMIM:601596
- Mononeuropathy of the median nerve, mild, OMIM:613353
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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
- Charcot-Marie-Tooth disease, type 4C, 601596
- Mononeuropathy of the median nerve, mild, 613353
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