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
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
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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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- London North GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 21, 616719
- Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
- Literature
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
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Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
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
- Spinocerebellar ataxia, autosomal recessive 21, 616719
- Early onset ataxia (<1 yr) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
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