Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83
|
review
|
Other
|
Sources
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80
|
review
|
Other
|
Sources
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
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
|
review
|
Other
|
Sources
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
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
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Other
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
Other
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
- currently-ngs-unreportable
- nucleotide-repeat-expansion
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review
- Expert Review Green
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
Other
|
Sources
- Expert Review Red
- NHS GMS
- Wessex and West Midlands GLH
- Brain channelopathy v1.46
- Hereditary ataxia v1.148
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
Other
|
Sources
- London North GLH
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
- nucleotide-repeat-expansion
- currently-ngs-unreportable
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Other
|
Sources
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
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
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
|
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 Review
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
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 list
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Amber
- Expert list
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
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
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Red
- Expert list
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- London North GLH
- Expert list
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Expert list
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|
Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
|