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
- 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
- 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
- 2-aminoadipic and 2-oxoadipic aciduria, 204750
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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
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
- 2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism)
- 2-aminoadipic and 2-oxoadipic aciduria, 204750
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Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Red
Phenotypes
- ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
- 2-aminoadipic 2-oxoadipic aciduria, 204750
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
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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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Radboud University Medical Center, Nijmegen
Phenotypes
- Charcot Marie Tooth disease, axonal, type 2Q, 615025
- 2 aminoadipic 2 oxoadipic aciduria, 204750
- 2 aminoadipic 2 oxoadipic aciduria, 204750
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- 2-aminoadipic 2-oxoadipic aciduria, 204750
- Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
- 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA
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Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
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
- Radboud University Medical Center, Nijmegen
Phenotypes
- 2-aminoadipic and 2-oxoadipic aciduria, 204750
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Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- South West GLH
- NHS GMS
- NHS GMS
- South West GLH
Phenotypes
- ?Charcot-Marie-Tooth disease, axonal, type 2Q, OMIM:615025
Tags
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- 2-aminoadipic 2-oxoadipic aciduria, 204750
- ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025
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