Activity
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.22 | DPP9 | Arina Puzriakova Classified gene: DPP9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.22 | DPP9 | Arina Puzriakova Added comment: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.22 | DPP9 | Arina Puzriakova Gene: dpp9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.21 | DPP9 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DPP9. Tag Q3_25_NHS_review tag was added to gene: DPP9. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v8.21 | DPP9 | Arina Puzriakova Publications for gene: DPP9 were set to PMID: 36112693 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.20 | DPP9 | Arina Puzriakova Phenotypes for gene: DPP9 were changed from Hatipoglu immunodeficiency syndrome to Hatipoglu immunodeficiency syndrome, OMIM:620331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.19 | DPP9 |
Hannah Knight 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 Added comment: 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 |
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