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, NOT imprinted
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Sources
Phenotypes
- Amyotrophic lateral sclerosis 4, juvenile 602433
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Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
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
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
|
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
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
|
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, NOT imprinted
|
Sources
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
- Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Ataxia-ocular apraxia-2, 606002
- Amyotrophic lateral sclerosis
- 4, juvenile, 602433
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert list
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
|
Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002
- Amyotrophic lateral sclerosis 4, juvenile, 602433
|