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
Phenotypes
- Spastic ataxia 3, autosomal recessive
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic ataxia 3, autosomal recessive, OMIM:611390
Tags
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308
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review
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Not set
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Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic ataxia 3, autosomal recessive
Tags
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Version 4.39
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
- Yorkshire and North East GLH
- Expert Review Amber
- NHS GMS
- London North GLH
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic ataxia 3, autosomal recessive, 611390
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Spastic ataxia 3, autosomal recessive, 611390
- Spastic ataxia 3, autosomal recessive
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Spastic ataxia 3, autosomal recessive, OMIM:611390
Tags
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Spastic Ataxia 13, autosomal recessive, 611390
- ?Combined oxidative phosphorylation deficiency 25
Tags
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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
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Spastic Ataxia 13, autosomal recessive, 611390
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- ?Combined oxidative phosphorylation deficiency 25
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Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Spastic ataxia 3, autosomal recessive, 611390
- ?Combined oxidative phosphorylation deficiency 25, 616430
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay)
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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
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Spastic Ataxia 13, autosomal recessive, 611390
- ?Combined oxidative phosphorylation deficiency 25
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Version 4.30
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
- Spastic ataxia 3, autosomal recessive
- Autosomal recessive spastic ataxia 3, 611390
Tags
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
Phenotypes
- Spastic ataxia 3, autosomal recessive, 611390
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Combined oxidative phosphorylation deficiency 25, 616430
- Spastic ataxia 3, autosomal recessive, 611390
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