Version 1.32
Signed off v.1.12
on 2 Mar 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
Unknown
|
Sources
Phenotypes
- Neuropathy,inflammatory demyelinating,139393
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.87
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy,inflammatory demyelinating,139393
|
Version 1.185
Signed off v.1.92
on 21 Aug 2020
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.146
Signed off v.2.5
on 13 Feb 2020
|
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
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert Review Amber
- 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
|
Version 1.21
Signed off v.1.2
on 27 Feb 2020
|
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
|
Version 1.43
|
review
|
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
|