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Intellectual disability

Gene: DPYS

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Overall variable clinical presentation, even including asymptomatic subjects. However, DD and/or ID have been reported in multiple published cases (PMIDs: 9266350; 17383919; 20362666; 27604308; 26771602; 29054612). Sufficient unrelated cases (>3) to rate Green but will seek opinion from the GMS expert group due to highly variable penetrance of this phenotype.
Created: 20 Apr 2021, 2:52 p.m. | Last Modified: 20 Apr 2021, 2:52 p.m.
Panel Version: 3.1028
Created: 20 Apr 2021, 2:52 p.m.
Last Modified: 20 Apr 2021, 2:52 p.m.
Panel version: 3.1028

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Highly variable phenotype, but many have ID.
Sources: Expert Review
Created: 10 Apr 2021, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dihydropyrimidinuria, MIM#222748

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 Apr 2021, 10:30 a.m.

Panel version: 3.1003

Details

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

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: DPYS.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to DPYS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Apr 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: DPYS.

20 Apr 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DPYS were set to

20 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dpys has been classified as Amber List (Moderate Evidence).

20 Apr 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

10 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DPYS was added gene: DPYS was added to Intellectual disability. Sources: Expert Review Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYS were set to Dihydropyrimidinuria, MIM#222748 Review for gene: DPYS was set to GREEN gene: DPYS was marked as current diagnostic