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
- UKGTN
Phenotypes
- Argininosuccinic aciduria 207900
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- Literature
Phenotypes
- Argininosuccinic aciduria, OMIM:207900
- argininosuccinic aciduria, MONDO:0008815
- Ataxia, HP:0001251
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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
- Literature
Phenotypes
- Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)
- Argininosuccinic aciduria
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- Argininosuccinic aciduria, OMIM:207900
- argininosuccinic aciduria, MONDO:0008815
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ARGININOSUCCINATE LYASE DEFICIENCY
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ARGININOSUCCINATE LYASE DEFICIENCY 207900
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- ClinGen
- Literature
Phenotypes
- Argininosuccinic aciduria, OMIM:207900
- argininosuccinic aciduria, MONDO:0008815
- seizure, HP:0001250
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
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 Green
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Argininosuccinic aciduria, OMIM:207900
- argininosuccinic aciduria, MONDO:0008815
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- London North GLH
Phenotypes
- Argininosuccinic aciduria, OMIM:207900
- argininosuccinic aciduria, MONDO:0008815
- tremor, HP:0001337
- Dystonia, HP:0001332
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Version 1.184
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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
- Argininosuccinic aciduria, 207900
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