Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.79
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
- Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
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Version 0.22
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
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Version 1.44
Latest signed off version: v1.2
(27 Feb 2020)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
- Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
Tags
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Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.247
Latest signed off version: v2.5
(13 Feb 2020)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.558
Latest signed off version: v2.2
(13 Feb 2020)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Expert
Phenotypes
- Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
- Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
- Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
- Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
- Liang-Wang syndrome, OMIM:618729
- Liang-Wang syndrome, MONDO:0032886
- {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596
- Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
- Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
- Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
- Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
- Liang-Wang syndrome, OMIM:618729
- Liang-Wang syndrome, MONDO:0032886
- {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596
- Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827
|
Version 1.240
Latest signed off version: v1.137
(5 Aug 2021)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
Phenotypes
- Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
- Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
- Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
- Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
- Liang-Wang syndrome, OMIM:618729
- Liang-Wang syndrome, MONDO:0032886
|
Version 1.127
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
- Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
- Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
- Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
- Liang-Wang syndrome, OMIM:618729
- Liang-Wang syndrome, MONDO:0032886
|