Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Dihydropyrimidine dehydrogenase deficiency
- 5-fluorouracil toxicity 274270
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Version 0.36
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review
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Not set
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Sources
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- 5-fluorouracil toxicity 274270
- Dihydropyrimidine dehydrogenase deficiency 274270
Tags
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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
- Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
- Dihydropyrimidine dehydrogenase deficiency 274270
Tags
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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
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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
- Dihydropyrimidine dehydrogenase deficiency 274270
- Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism)
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
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
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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
- Expert Review
- Expert Review Green
Phenotypes
- 5-fluorouracil toxicity 274270
- Dihydropyrimidine dehydrogenase deficiency 274270
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
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
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270
Tags
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Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Dihydropyrimidine dehydrogenase deficiency , 274270
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
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
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- 5-fluorouracil toxicity, 274270
- Dihydropyrimidine dehydrogenase deficiency, 274270
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