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
- Expert Review
Phenotypes
- Seizures, benign familial infantile, 5, OMIM:617080
- Paroxysmal kinesigenic dyskinesias
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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
Phenotypes
- Cognitive impairment with or without cerebellar ataxia, OMIM:614306
- Developmental and epileptic encephalopathy 13, OMIM:614558
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Cognitive impairment with or without cerebellar ataxia, OMIM:614306
- Developmental and epileptic encephalopathy 13, OMIM:614558
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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 Amber
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Seizures, benign familial infantile, 5, OMIM:617080
- Paroxysmal kinesigenic dyskinesias
- ?Myoclonus, familial, 2, OMIM:618364
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- epilepsy
- Cognitive impairment with or without cerebellar ataxia, 614306
- paroxysmal kinesigenic dyskinesias
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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 Red
- PAGE DD-Gene2Phenotype
Phenotypes
- COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- craniosynostosis, MONDO:0015469
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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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558
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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
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
Phenotypes
- Developmental and epileptic encephalopathy 13, OMIM:614558
- Seizures, benign familial infantile, 5, OMIM:617080
- ?Myoclonus, familial, 2, OMIM:618364
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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, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cognitive impairment with or without cerebellar ataxia, OMIM:614306
- Developmental and epileptic encephalopathy 13, OMIM:614558
|
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
- Hereditary ataxia v1.148
Phenotypes
- Cognitive impairment with or without cerebellar ataxia, OMIM:614306
- Developmental and epileptic encephalopathy 13, OMIM:614558
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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
- epilepsy
- paroxysmal kinesigenic dyskinesias
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
- Seizures, benign familial infantile, 5, OMIM:617080
- Paroxysmal kinesigenic dyskinesias
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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
- Epileptic encephalopathy, early infantile, 13, 614558
- ?Myoclonus, familial, 2, 618364
- Cognitive impairment with or without cerebellar ataxia, 614306
- Seizures, benign familial infantile, 5, 617080
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