Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.80
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
Phenotypes
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
- EPISODIC KINESIGENIC DYSKINESIA 1
- SEIZURES, BENIGN FAMILIAL INFANTILE, 2
- episodic kinesigenic dyskinesia
- dystonia and occasionally hemiplegic migraine and epilepsy
Tags
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Episodic kinesigenic dyskinesia 1, 128200
- Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
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Version 4.64
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
- Episodic kinesigenic dyskinesia 1, 128200
- Seizures, benign familial infantile, 2, 605751
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- UKGTN
Phenotypes
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
- Episodic kinesigenic dyskinesia 1, 128200
- Seizures, benign familial infantile, 2, 605751
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Seizures, benign familial infantile, 2, 605751
- dystonia and occasionally hemiplegic migraine and epilepsy
- Episodic kinesigenic dyskinesia 1, 128200
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- dystonia and occasionally hemiplegic migraine and epilepsy
- episodic kinesigenic dyskinesia
- EPISODIC KINESIGENIC DYSKINESIA 1
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
- Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
- SEIZURES, BENIGN FAMILIAL INFANTILE, 2
- Episodic kinesigenic dyskinesia 1, 128200
Tags
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
- AUTOSOMAL RECESSIVE MENTAL RETARDATION
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Version 3.88
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- AUTOSOMAL RECESSIVE MENTAL RETARDATION
- BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Expert Review Green
- UKGTN
- Expert
Phenotypes
- Convulsions, familial infantile, with paroxysmal choreoathetosis
- Episodic kinesigenic dyskinesia 1
- Seizures, benign familial infantile, 2
- BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Epilepsy
- mental retardation
- movement disorders
- paroxysmal disorder
- Autosomal recessive mental retardation
Tags
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Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
- Hereditary ataxia v1.148
Phenotypes
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
- SEIZURES, BENIGN FAMILIAL INFANTILE, 2
- EPISODIC KINESIGENIC DYSKINESIA 1
- Familial infantile convulsions with paroxysmal dyskinesia 1, 602066
- dystonia and occasionally hemiplegic migraine and epilepsy
- episodic kinesigenic dyskinesia
- episodic kinesigenic dyskinesia, 128200
Tags
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Episodic kinesigenic dyskinesia 1, OMIM:128200
- Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
- Episodic kinesigenic dyskinesia 1, 128200
- dystonia and occasionally hemiplegic migraine and epilepsy
- Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
- episodic kinesigenic dyskinesia
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Episodic kinesigenic dyskinesia 1, 128200
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
- Seizures, benign familial infantile, 2, 605751
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