Version 3.31
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Neuropathy,congenital hypomyelinating,605253
- Congenital Hypomyelination
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Hypomyelination
- Neuropathy,congenital hypomyelinating,605253
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Expert list
Phenotypes
- Neuropathy, congenital hypomyelinating 605253
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE Additional Gene List
Phenotypes
- Charcot-Marie-Tooth disease, type 1B 118200
- Charcot-Marie-Tooth disease, type 2I 607677
- Roussy-Levy syndrome 180800
- Dejerine-Sottas disease 145900
- Charcot-Marie-Tooth disease, type 2J 607736
- Charcot-Marie-Tooth disease, dominant intermediate D 607791
- Neuropathy, congenital hypomyelinating 605253
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
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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
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Charcot Marie Tooth disease, type 2I, 607677
- Charcot Marie Tooth disease, type 1B, 118200
- Charcot Marie Tooth disease, type 2J, 607736
- Roussy Levy syndrome, 180800
- Charcot Marie Tooth disease, type 2J, 607736
- Roussy Levy syndrome, 180800
- Charcot Marie Tooth disease, type 2I, 607677
- Charcot Marie Tooth disease, dominant intermediate D, 607791
- Dejerine Sottas disease, 145900
- Dejerine Sottas disease, 145900
- Charcot Marie Tooth disease, dominant intermediate D, 607791
- Neuropathy, congenital hypomyelinating, 605253
- Neuropathy, congenital hypomyelinating, 605253
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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
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Sources
- Victorian Clinical Genetics Services
- Expert Review Red
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791)
- Charcot-Marie-Tooth disease, type 1B
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Version 3.83
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
- Neuropathy, congenital hypomyelinating, 605253
- Dejerine Sottas disease, 145900
- Charcot Marie Tooth disease, dominant intermediate D, 607791
- Roussy Levy syndrome, 180800
- Charcot Marie Tooth disease, type 2J, 607736
- Charcot Marie Tooth disease, type 1B, 118200
- Charcot Marie Tooth disease, type 2I, 607677
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Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, type 2I, 607677
- Dejerine-Sottas disease, 145900
- Charcot-Marie-Tooth disease, type 2J, 607736
- Roussy-Levy syndrome, 180800
- Charcot-Marie-Tooth disease, type 1B, 118200
- Hypomyelinating neuropathy, congenital, 2, 618184
- Charcot-Marie-Tooth disease, dominant intermediate D, 607791
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