Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
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Version 4.63
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
- Ataxia with Oculomotor Apraxia
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
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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
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Ataxia with Oculomotor Apraxia
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Ataxia with Oculomotor Apraxia
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Dystonia
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of ubiquinone metabolism and biosynthesis
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- Ataxia with oculomotor apraxia 1
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Version 4.137
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Ataxia with oculomotor apraxia 1
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- Disorders of ubiquinone metabolism and biosynthesis
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ATAXIA WITH OCULOMOTOR APRAXIA 1
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- South West GLH
- NHS GMS
- London North GLH
- Emory Genetics Laboratory
Phenotypes
- Hereditary Neuropathies
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- ATAXIA WITH OCULOMOTOR APRAXIA 1
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- ATAXIA WITH OCULOMOTOR APRAXIA 1
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.168
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Disorders of ubiquinone metabolism and biosynthesis
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
- Ataxia with oculomotor apraxia 1
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Ataxia with Oculomotor Apraxia
- Early onset ataxia with oculomotor apraxia and hypoalbuminemia
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
- ataxia with oculomotor apraxia type 1 MONDO:0008842
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- South West GLH
- Emory Genetics Laboratory
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Hereditary Neuropathies
- ATAXIA WITH OCULOMOTOR APRAXIA 1
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
|
Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Dystonia
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
|