Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80
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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 0.36
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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 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
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 4.193
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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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 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
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
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 1.184
|
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
|