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
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- Emory Genetics Laboratory
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
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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
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
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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
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
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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
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
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Version 3.79
Latest signed off version: v3.1
(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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
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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
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
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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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Developmental and epileptic encephalopathy 15, OMIM:615006
- developmental and epileptic encephalopathy, 15, MONDO:0014003
- Intellectual developmental disorder, autosomal recessive 12, OMIM:611090
- intellectual disability, autosomal recessive 12, MONDO:0012612
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mental retardation, autosomal recessive 12, 611090
- ?Epileptic encephalopathy, early infantile, 15, 615006
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