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Intellectual disability

Gene: DPYS

Amber List (moderate evidence)

DPYS (dihydropyrimidinase)
EnsemblGeneIds (GRCh38): ENSG00000147647
EnsemblGeneIds (GRCh37): ENSG00000147647
OMIM: 613326, Gene2Phenotype
DPYS is in 5 panels

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Dihydropyrimidinuria, OMIM:222748
Tags
Q2_21_expert_review
OMIM
613326
Clinvar variants
Variants in DPYS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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