Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Fasting intolerance with acidosis, ? residual neurological problems
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- 3-Oxothiolase deficiency (Organic acidurias)
- Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)
- Fasting intolerance with acidosis, ? residual neurological problems
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Version 4.137
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
|
Sources
- NHS GMS
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism)
- Fasting intolerance with acidosis, ? residual neurological problems
- 3-Oxothiolase deficiency (Organic acidurias)
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Alpha-methylacetoacetic aciduria, 203750
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ALPHA-METHYLACETOACETIC ACIDURIA
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Version 3.90
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
- ALPHA-METHYLACETOACETIC ACIDURIA 203750
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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 Amber
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gene2Phenotype confirmed gene with ID HPO
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Alpha-methylacetoacetic aciduria, 203750
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Alpha-methylacetoacetic aciduria, 203750
|