Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
- ?Paroxysmal nocturnal hemoglobinuria 2, 615399
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398
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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
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review
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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
- Literature
- Expert Review Green
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3
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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
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.182
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Paroxysmal nocturnal hemoglobinuria 2, 615399
- Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
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