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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Spinocerebellar ataxia 5, OMIM:600224
- Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Spinocerebellar ataxia 5, OMIM:600224
- Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Other
- Eligibility statement prior genetic testing
Phenotypes
- Spinocerebellar ataxia 5, OMIM:600224
- Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Spinocerebellar ataxia 5, OMIM:600224
- Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
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Version 3.146
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 Red
- DD-Gene2Phenotype
Phenotypes
- SCA14
- Infantile ataxia with oculomotor and pyramidal signs
- Spinocerebellar ataxia, autosomal recessive 14, 615386
Tags
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- SCA14
- Infantile ataxia with oculomotor and pyramidal signs
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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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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
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
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Spinocerebellar ataxia 5, OMIM:600224
- Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
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Version 3.83
Latest signed off version: v3.24
(15 May 2023)
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.182
|
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
- Spinocerebellar ataxia 5, 600224
- Spinocerebellar ataxia, autosomal recessive 14, 615386
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