Version 3.31
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Version 4.58
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
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Version 3.19
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
- NHS GMS
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Version 4.134
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review Green
- NHS GMS
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Version 3.103
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 Green
- NHS GMS
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- MetBioNet
- NHS GMS
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
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Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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