Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Distal Spinal Muscular Atrophy
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Red
- Expert list
Tags
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, type 2D
- Neuropathy, distal hereditary motor, type VA
Tags
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Charcot-Marie-Tooth disease, type 2D
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Neuropathy, distal hereditary motor, type VA
Tags
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Neuropathy, distal hereditary motor, type VA, 600794
- Charcot-Marie-Tooth disease, type 2D, 601472
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6
Latest signed off version: v3.3
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Distal Spinal Muscular Atrophy
Tags
|
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
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Neuropathy, distal hereditary motor, type V, 600794
- Neuropathy, distal hereditary motor, type V, 600794
- Charcot Marie Tooth disease, type 2D, 601472
Tags
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert list
- Expert
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, type 2D
- Neuropathy, distal hereditary motor, type VA
Tags
|
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
- Neuropathy, distal hereditary motor, type V, 600794
- Charcot Marie Tooth disease, type 2D, 601472
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
Tags
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, type 2D, 601472
- Neuropathy, distal hereditary motor, type VA, 600794
Tags
|