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Genetic epilepsy syndromes

Gene: DPYD

Green List (high evidence)

DPYD (dihydropyrimidine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000188641
EnsemblGeneIds (GRCh37): ENSG00000188641
OMIM: 612779, Gene2Phenotype
DPYD is in 9 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR dihydropyrimidine dehydrogenase defic and 5-fluorouracil toxicity. Large phenotypic variability ranging from no symptoms to a convulsive disorder with motor and mental retardation in hom patients. Van Gennip et al, 1994 and Meinsma et al, 1995 - splicing variant (IVS14+1G>A)- parents and an unaff sib het carriers. vreken et al, 1997 - 4bp del in 2 aff sibs of a Dutch consang family - both aff had seizures. Van Kuilenburg et al, 1999 - 22 patients from 17 families with complete DPD defic - 7 diff mutations identified - 52% of mutant alleles is splice variant reported by Meinsma et al. Van Kuilenberg et al, 2009 - intragenic deletions of the DPYD defic in whom no point mutations identified. 3 had a hom 13.8kb del and 1 had a hom 122kb del. All patients born of consang families. 5th patient compound het for a 4bp del and a 14-Mb del on the chromosome. All patients severely aff incl epilepsy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
5-fluorouracil toxicity,274270; Dihydropyrimidine dehydrogenase deficiency,274270

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 5 variants reported. Pharmacogentic tag added with comment: Heterozygous individuals can be affected by fluorouracil toxicity.
Created: 16 Mar 2017, 2:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
Phenotypes
  • 5-fluorouracil toxicity 274270
  • Dihydropyrimidine dehydrogenase deficiency 274270
OMIM
612779
Clinvar variants
Variants in DPYD
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DPYD.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DPYD.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

19 Apr 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DPYD were set to 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270

19 Apr 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DPYD were set to 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DPYD was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

DPYD was created by Sarah Leigh