Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
|
review
|
Unknown
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Sources
- Expert Review Red
- Literature
Phenotypes
- Risk of Hirschsprung Disease
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- UKGTN
Phenotypes
- Epilepsy, generalized, with febrile seizures plus, type 3 611277
- Febrile seizures, familial, 8 611277
- {Epilepsy, childhood absence, susceptibility to, 2} 607681
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Febrile seizures, familial, 8 611277
- Epilepsy, generalized, with febrile seizures plus, type 3 611277
- {Epilepsy, childhood absence, susceptibility to, 2} 607681
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 611277
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert
Phenotypes
- Epilepsy, generalized, with febrile seizures plus, type 3 611277
- Febrile seizures, familial, 8 611277
- {Epilepsy, childhood absence, susceptibility to, 2} 607681
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Epilepsy, generalized, with febrile seizures plus, type 3 611277
- Febrile seizures, familial, 8 611277
- {Epilepsy, childhood absence, susceptibility to, 2} 607681
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Epileptic encephalopathy, early infantile, 74, 618396
- Epilepsy, generalized, with febrile seizures plus, type 3, 607681
- Febrile seizures, familial, 8, 607681
|