Version 5.352
Latest signed off version: v5.43
(4 Mar 2020)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Amyotrophic lateral sclerosis 4, juvenile 602433
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Version 2.300
Latest signed off version: v2.23
(8 Oct 2020)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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 1.303
|
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 1.23
Latest signed off version: v1.2
(3 Mar 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
Tags
|
Version 2.275
Latest signed off version: v2.178
(5 Aug 2021)
|
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
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
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 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
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 1.60
|
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 1.79
Latest signed off version: v1.30
(4 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
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 1.454
|
review
|
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
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
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 2.158
Latest signed off version: v2.13
(6 Oct 2020)
|
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 1.103
Latest signed off version: v1.36
(5 Aug 2021)
|
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 1.240
Latest signed off version: v1.137
(5 Aug 2021)
|
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 1.127
|
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
|