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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydropyrimidinuria, MIM#222748

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dihydropyrimidinuria, MIM#222748
OMIM
613326
Clinvar variants
Variants in DPYS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2025, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DPYS were set to

1 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dpys has been classified as Green List (High Evidence).

1 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DPYS were changed from to Dihydropyrimidinuria, MIM#222748

1 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DPYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DPYS was added gene: DPYS was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DPYS was set to Unknown