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, congenital hypomyelinating, 1, 605253
- Charcot-Marie-Tooth disease,type 1D,607678
- Dejerine-Sottas disease,145900
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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
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Charcot-Marie-Tooth disease,type 1D,607678
- Dejerine-Sottas disease,145900
- Neuropathy, congenital hypomyelinating, 1, 605253
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.26
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- Expert list
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- NEUROPATHY, CONGENITAL HYPOMYELINATING, 1
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Charcot Marie Tooth disease, type 1D, 607678
- Charcot-Marie-Tooth, Type 1
|
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
- Gene2Phenotype confirmed gene with ID HPO
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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
- 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, Type 1
- Charcot Marie Tooth disease, type 1D, 607678
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Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, type 1D, 607678
- Dejerine-Sottas disease, 145900
- Hypomyelinating neuropathy, congenital, 1, 605253
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