Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
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Version 3.87
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
- PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert
Phenotypes
- Pyridoxamine 5'-phosphate oxidase deficiency, 610090
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
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Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Pyridoxamine 5'-phosphate oxidase deficiency, 610090
- Neonatal epileptic encephalopathy
- Global developmental delay
Tags
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Version 3.75
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 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pyridoxamine 5'-phosphate oxidase deficiency, 610090
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