Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DPP9EnsemblGeneIds (GRCh38): ENSG00000142002
EnsemblGeneIds (GRCh37): ENSG00000142002
OMIM: 608258, Gene2Phenotype
DPP9 is in 1 panel
3 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 1:46 p.m. | Last Modified: 11 Mar 2026, 1:46 p.m.
Panel Version: 8.82
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
Hannah Knight (NIHR BioResource - University of Cambridge)
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: LiteratureCreated: 24 Jul 2025, 10:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hatipoglu immunodeficiency syndrome
Publications
- PMID: 36112693
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hatipoglu immunodeficiency syndrome, OMIM:620331
- OMIM
- 608258
- Clinvar variants
- Variants in DPP9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q3_25_promote_green was removed from gene: DPP9. Tag Q3_25_NHS_review was removed from gene: DPP9.
Added New Source, Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)Source NHS GMS was added to DPP9. Source Expert Review Green was added to DPP9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: dpp9 has been classified as Amber List (Moderate Evidence).
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.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: DPP9 were set to PMID: 36112693
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DPP9 were changed from Hatipoglu immunodeficiency syndrome to Hatipoglu immunodeficiency syndrome, OMIM:620331
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