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  2. Nucleotide metabolism disorders
  3. DPYS
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Nucleotide metabolism disorders

Gene: DPYS

Green List (high evidence)
DPYS (dihydropyrimidinase)
EnsemblGeneIds (GRCh38): ENSG00000147647
EnsemblGeneIds (GRCh37): ENSG00000147647
OMIM: 613326, Gene2Phenotype
DPYS is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Dihydropyrimidinuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Created: 4 Feb 2021, 12:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydropyrimidinuria MIM#222748; Disorders of pyrimidine metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Feb 2021, 12:16 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.131

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydropyrimidinuria, MIM#222748

Created: 1 Dec 2019, 6:30 a.m.
Last Modified: 1 Dec 2019, 6:30 a.m.
Panel version: Imported from Mendeliome panel version 0.129

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dihydropyrimidinuria MONDO:0009111
  • Disorders of pyrimidine metabolism
OMIM
613326
Clinvar variants
Variants in DPYS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DPYS was added gene: DPYS was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYS were set to 9718352; 29054612; 30384990 Phenotypes for gene: DPYS were set to Dihydropyrimidinuria MONDO:0009111; Disorders of pyrimidine metabolism