Activity
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8 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 | IL27RA | Achchuthan Shanmugasundram Classified gene: IL27RA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.15 | IL27RA | Achchuthan Shanmugasundram Gene: il27ra has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.14 | IL27RA |
Achchuthan Shanmugasundram changed review comment from: PMID:38509369 reported three children from two families with severe acute primary Epstein-Barr virus infection. One family was reported with a homozygous p.Gln96Ter variant and the other family was reported with compound heterozygous variants - an-inframe deletion of (p.Gln381_Ala395del) and a missense variant p.Arg446Gly. p.Arg446Gly was identified in homozygous state in 15 individuals from FinnGen database, which contains >400,000 individuals. Two of these individuals had hospital diagnoses of EBV infectious mononucleosis (IM). There is extensive ex vivo and in vitro data available, including mice model. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:38509369 reported three children from two families with severe acute primary Epstein-Barr virus infection. One family was reported with a homozygous p.Gln96Ter variant and the other family was reported with compound heterozygous variants - an-inframe deletion of (p.Gln381_Ala395del) and a missense variant p.Arg446Gly. p.Arg446Gly was enriched in the Finnish population (minor allele frequency = 0.0068) and was identified in homozygous state in 15 individuals from FinnGen database, which contains >400,000 individuals. Two of these individuals had hospital diagnoses of EBV infectious mononucleosis (IM). There is extensive ex vivo and in vitro data available, including mice model. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. The evidence available suggests that the rating should be borderline amber/ green due to functional data. Hence, the 'watchlist' tag has been added with amber rating. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v7.14 | IL27RA | Achchuthan Shanmugasundram Phenotypes for gene: IL27RA were changed from Severe EBV infection to Epstein-Barr virus infection, MONDO:0005111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 | IL27RA | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: IL27RA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v7.13 | IL27RA | Achchuthan Shanmugasundram reviewed gene: IL27RA: Rating: AMBER; Mode of pathogenicity: None; Publications: 38509369; Phenotypes: Epstein-Barr virus infection, MONDO:0005111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.16 | IL27RA | Dmitrijs Rots reviewed gene: IL27RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 | IL27RA |
Boaz Palterer gene: IL27RA was added gene: IL27RA was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL27RA were set to 38509369 Phenotypes for gene: IL27RA were set to Severe EBV infection Penetrance for gene: IL27RA were set to unknown Review for gene: IL27RA was set to RED Added comment: Martin et al described 3 patients from two kindreds with homozygous IL27RA deficiency, presenting with severe primo EBV infection. Extensive ex vivo and in vitro data, including mice model. Sources: Literature |
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