Miscellaneous Metabolic Disorders
Gene: DPYS
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 GMSCreated: 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydropyrimidinuria, MIM#222748
Gene: dpys has been classified as Green List (High Evidence).
Gene: dpys has been classified as Green List (High Evidence).
gene: DPYS was added gene: DPYS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYS were set to Dihydropyrimidinuria MIM#222748; Disorders of pyrimidine metabolism Review for gene: DPYS was set to GREEN gene: DPYS was marked as current diagnostic