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
- Literature
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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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
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477
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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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert
- Expert Review Green
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
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
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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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 Green
- NHS GMS
- Literature
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
|
Version 4.10
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Developmental and epileptic encephalopathy 5, OMIM:613477
- developmental and epileptic encephalopathy, 5, MONDO:0013277
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