Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
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Unknown
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Sources
Phenotypes
- Neuropathy,inflammatory demyelinating,139393
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
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review
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Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy,inflammatory demyelinating,139393
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE Additional Gene List
Phenotypes
- Neuropathy, recurrent, with pressure palsies 162500
- Charcot-Marie-Tooth disease, type 1A 118220
- Charcot-Marie-Tooth disease, type 1E 118300
- Dejerine-Sottas disease 145900
- Neuropathy, inflammatory demyelinating 139393
- Roussy-Levy syndrome 180800
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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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
Phenotypes
- Neuropathy, inflammatory demyelinating, 139393
- Charcot Marie Tooth disease, type 1A, 118220
- Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
- Dejerine Sottas disease, 145900
- Dejerine Sottas disease, 145900
- Neuropathy, recurrent, with pressure palsies, 162500
- Neuropathy, recurrent, with pressure palsies, 162500
- Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
- Neuropathy, inflammatory demyelinating, 139393
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert
Phenotypes
- Charcot-Marie-Tooth disease, type 1E OMIM:118300
- Charcot-Marie-Tooth disease type 1E MONDO:0007311
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Charcot-Marie-Tooth disease, type 1A, 118220
- Dejerine-Sottas
- disease, 145900
- Neuropathy, recurrent, with pressure palsies, 162500
- Charcot-Marie-Tooth disease, type 1E, 118300
- Roussy-Levy syndrome, 180800
- Neuropathy, inflammatory demyelinating, 139393
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Eligibility statement prior genetic testing
- 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
- Dejerine Sottas disease, 145900
- Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800
- Neuropathy, recurrent, with pressure palsies, 162500
- Charcot Marie Tooth disease, type 1A, 118220
- Neuropathy, inflammatory demyelinating, 139393
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, type 1E, 118300
- ?Neuropathy, inflammatory demyelinating, 139393
- Dejerine-Sottas disease, 145900
- Roussy-Levy syndrome, 180800
- Neuropathy, recurrent, with pressure palsies, 162500
- Charcot-Marie-Tooth disease, type 1A, 118220
|