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
Phenotypes
- familial hemiplegic migraine 3
- Dravet syndrome
- several epilepsy, convulsion and migraine disorders.
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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
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Dravet syndrome OMIM:607208
- developmental and epileptic encephalopathy, 6 MONDO:0100079
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Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Literature
Phenotypes
- Cerebral small vessel disease
- Dravet syndrome 607208
- Epilepsy, generalized, with febrile seizures plus, type 2 604403
- Febrile seizures, familial, 3A 604403
- Migraine, familial hemiplegic, 3 609634
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Version 0.36
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review
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Not set
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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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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
- Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208
- Epilepsy, generalized, with febrile seizures plus, type 2, 604403
- Migraine, familial hemiplegic, 3, 609634
- several epilepsy, convulsion and migraine disorders
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Arthrogryposis multiplex congenita
- Dravet syndrome, OMIM:607208
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- several epilepsy, convulsion and migraine disorders.
- familial hemiplegic migraine 3
- Dravet syndrome
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Dravet syndrome, OMIM:607208
- Arthrogryposis multiplex congenita
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- SCN1A-RELATED SEIZURE DISORDERS 607208
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
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
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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
- UKGTN
- Expert
- Expert Review Green
Phenotypes
- Epilepsy, generalized, with febrile seizures plus, type 2 604403
- Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208
- Febrile seizures, familial, 3A 604403
- Migraine, familial hemiplegic, 3 609634
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403
- SCN1A-RELATED SEIZURE DISORDERS
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
Phenotypes
- familial hemiplegic migraine 3
- Familial febrile seziures 3A, 604403
- Dravet syndrome
- several epilepsy, convulsion and migraine disorders.
- Generalised epilepsy with febrile seizures type 2, 604403
- Familial hemiplegic migraine 3, 609634
- Epileptic encephalopathy 6, 607208
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Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- Dravet syndrome
- several epilepsy, convulsion and migraine disorders.
- familial hemiplegic migraine 3
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- PanelApp
- London North GLH
Phenotypes
- Dravet syndrome
- familial hemiplegic migraine 3
- several epilepsy, convulsion and migraine disorders.
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Epilepsy, generalized, with febrile seizures plus, type 2, 604403
- Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208
- Migraine, familial hemiplegic, 3, 609634
- Febrile seizures, familial, 3A, 604403
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