Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121
|
review
|
Other
|
Sources
Phenotypes
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
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
|
review
|
Other
|
Sources
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
Other
|
Sources
- Expert Review Red
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
Other
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69
|
review
|
Other
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
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
|
Other
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Other
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Red
- Hereditary ataxia v1.148
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
Other
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
Tags
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
Tags
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
|
Version 4.42
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Amber
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
|
Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- South West GLH
- London North GLH
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- London North GLH
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Removed
- Expert list
Phenotypes
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Removed
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
Tags
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
- {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Tags
|
Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia 2, OMIM:183090
- {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tags
|