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  3. DPP9
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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: DPP9

Amber List (moderate evidence)
DPP9 (dipeptidyl peptidase 9)
EnsemblGeneIds (GRCh38): ENSG00000142002
EnsemblGeneIds (GRCh37): ENSG00000142002
OMIM: 608258, Gene2Phenotype
DPP9 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Three unrelated families with four individuals with an immune disorder characterised by failure to thrive, skin manifestations, pancytopenia, recurrent fevers and recurrent infections. Supporting mouse and zebrafish models (PMID: 36112693)
Created: 30 Jul 2025, 12:32 p.m. | Last Modified: 30 Jul 2025, 12:32 p.m.
Panel Version: 8.22
Created: 30 Jul 2025, 12:32 p.m.
Last Modified: 30 Jul 2025, 12:32 p.m.
Panel version: 8.22

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 36112693 reported four patients from three unrelated families with biallelic DPP9 variants causing Hatipoglu immunodeficiency syndrome:
- A 6-year-old boy, born of unrelated parents of Ashkenazi Jewish descent, with compound heterozygous variants (p.S214X and p.G167S)
- A 14-year-old boy, born of consanguineous Turkish parents, with a homozygous variant (p.Q851X)
- Two male patients from a consanguineous Bedouin family in Israel, with a homozygous variant (p.R111X)
Sources: Literature
Created: 24 Jul 2025, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hatipoglu immunodeficiency syndrome

Publications

Created: 24 Jul 2025, 10:33 a.m.

Panel version: 8.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hatipoglu immunodeficiency syndrome, OMIM:620331
Tags
Q3_25_promote_green Q3_25_NHS_review
OMIM
608258
Clinvar variants
Variants in DPP9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dpp9 has been classified as Amber List (Moderate Evidence).

30 Jul 2025, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: DPP9. Tag Q3_25_NHS_review tag was added to gene: DPP9.

30 Jul 2025, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DPP9 were set to PMID: 36112693

30 Jul 2025, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DPP9 were changed from Hatipoglu immunodeficiency syndrome to Hatipoglu immunodeficiency syndrome, OMIM:620331

24 Jul 2025, Gel status: 0

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

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: DPP9 was added gene: DPP9 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPP9 were set to PMID: 36112693 Phenotypes for gene: DPP9 were set to Hatipoglu immunodeficiency syndrome Review for gene: DPP9 was set to GREEN