Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Maple syrup urine disease, type II 248600
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
- Maple syrup urine disease, type II
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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
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
- Maple syrup urine disease, type II
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MAPLE SYRUP URINE DISEASEQ
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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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MAPLE SYRUP URINE DISEASEQ 248600
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.181
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Maple syrup urine disease, type II, 248600
- seizures
- convulsions
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Maple syrup urine disease, type II, 248600
- MAPLE SYRUP URINE DISEASEQ
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Maple syrup urine disease, type II, 248600
|