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| Mendeliome v2.511 | GPR174 | Zornitza Stark edited their review of gene: GPR174: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.511 | GPR174 | Zornitza Stark Marked gene: GPR174 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.511 | GPR174 | Zornitza Stark Gene: gpr174 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.511 | GPR174 | Zornitza Stark Mode of inheritance for gene: GPR174 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.510 | GPR174 | Zornitza Stark Classified gene: GPR174 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.510 | GPR174 | Zornitza Stark Gene: gpr174 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.509 | GPR174 |
Zornitza Stark gene: GPR174 was added gene: GPR174 was added to Mendeliome. Sources: Literature preprint tags were added to gene: GPR174. Mode of inheritance for gene: GPR174 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GPR174 were set to 42528559 Phenotypes for gene: GPR174 were set to Inborn error of immunity, MONDO:0003778, GPR174-related Review for gene: GPR174 was set to GREEN Added comment: PMID 42528559 reports six hemizygous males from five families with X-linked loss-of-function GPR174 variants presenting with childhood-onset lymphadenopathy, splenomegaly, histiocytic necrotizing lymphadenitis (Kikuchi-Fujimoto disease) and autoimmune cytopenias. Cell‑based cAMP reporter assays and protein‑level analyses demonstrate reduced receptor abundance and signalling, and CD8 T‑cell hyper‑proliferation. Sources: Literature |
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