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Intellectual disability syndromic and non-syndromic

Gene: DPYS

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Highly variable phenotype, but many have ID.
Created: 1 Dec 2019, 6:27 a.m. | Last Modified: 1 Dec 2019, 6:27 a.m.
Panel Version: 0.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydropyrimidinuria, MIM#222748

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Dihydropyrimidinuria, MIM#222748
OMIM
613326
Clinvar variants
Variants in DPYS
Penetrance
None
Panels with this gene

History Filter Activity

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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPYS was set to Unknown