Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
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Version 3.3
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
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
Phenotypes
- Sialuria OMIM:269921
- sialuria MONDO:0010028
- Nonaka myopathy OMIM:605820
- GNE myopathy MONDO:0011603
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Nonaka myopathy 605820
- ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Myopathy associated with thrombocytopenia
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Nonaka myopathy, OMIM:605820
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Nonaka myopathy, 605820
- Distal myopathy
- Limb girdle muscular dystrophy
- Limb-girdle muscular dystrophy
- quadriceps sparing myopathy
- distal myopathy
- Nonaka myopathy, HIBM
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- (NO OMIM NUMBER)
- Myopathy associated with thrombocytopenia
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Version 3.34
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
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Sialuria OMIM:269921
- sialuria MONDO:0010028
- Nonaka myopathy OMIM:605820
- GNE myopathy MONDO:0011603
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Sialuria OMIM:269921
- sialuria MONDO:0010028
- Nonaka myopathy OMIM:605820
- GNE myopathy MONDO:0011603
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- GNE-associated congenital myopathy
- GNE-associated sialuria, OMIM:269921
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert list
Phenotypes
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Sialuria, 269921
- Nonaka myopathy, 605820
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