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  2. Likely inborn error of metabolism
  3. DPYS
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Likely inborn error of metabolism

Gene: DPYS

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 5 variants reported in 4 cases
Created: 12 Jan 2017, 12:15 p.m.
Created: 12 Jan 2017, 12:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dihydropyrimidinuria, OMIM:222748
  • Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)
OMIM
613326
Clinvar variants
Variants in DPYS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DPYS were changed from Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) to Dihydropyrimidinuria, OMIM:222748; Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)

7 Jul 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DPYS were set to 27604308

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DPYS. Source London North GLH was added to DPYS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DPYS was added gene: DPYS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPYS were set to 27604308 Phenotypes for gene: DPYS were set to Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism)