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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.102 | NFATC2 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are only two unrelated cases published with biallelic NFATC2 variants and with a relevant phenotype. They displayed phenotypic variability with both displaying lymphoproliferative disorder, but only one with skeletal phenotype. Hence, this gene should be rated amber with the current evidence.; to: Comment on list classification: There are only two unrelated cases published with biallelic NFATC2 variants and with a relevant phenotype. They displayed phenotypic variability with both displaying lymphoproliferative disorder, but only one with skeletal phenotype. Hence, this gene should be rated amber with the current evidence. The 'watchlist' tag has been added as there is an additional patient reported in a conference abstract with relevant phenotype. Hence, this gene should be reviewed and updated when additional published evidence become available. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.102 | NFATC2 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: NFATC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.95 | NFATC2 | Achchuthan Shanmugasundram Classified gene: NFATC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.95 | NFATC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are only two unrelated cases published with biallelic NFATC2 variants and with a relevant phenotype. They displayed phenotypic variability with both displaying lymphoproliferative disorder, but only one with skeletal phenotype. Hence, this gene should be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.95 | NFATC2 | Achchuthan Shanmugasundram Gene: nfatc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.94 | NFATC2 | Achchuthan Shanmugasundram Publications for gene: NFATC2 were set to 35789258 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.93 | NFATC2 | Achchuthan Shanmugasundram Phenotypes for gene: NFATC2 were changed from progressive joint contractures; osteochondromas; B cell malignancy; diarrhea; chronic lung disease; hypogammaglobulinemia to ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232; joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369; lymphoproliferative syndrome, MONDO:0016537 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.92 | NFATC2 | Achchuthan Shanmugasundram reviewed gene: NFATC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35789258, 38427060; Phenotypes: ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232, joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369, lymphoproliferative syndrome, MONDO:0016537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | NFATC2 |
Boaz Palterer gene: NFATC2 was added gene: NFATC2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC2 were set to 35789258 Phenotypes for gene: NFATC2 were set to progressive joint contractures; osteochondromas; B cell malignancy; diarrhea; chronic lung disease; hypogammaglobulinemia Penetrance for gene: NFATC2 were set to unknown Review for gene: NFATC2 was set to RED Added comment: NFATC2 (also known as NFAT1) encodes the nuclear factor of activated T cells 2, a critical calcium/calcineurin-dependent transcription factor essential for T cell activation, immune homeostasis, and cell fate regulation. Sharma et al. identified 1 patient from 1 family carrying a homozygous pathogenic NFATC2 frameshift variant (p.Tyr675Thrfs*18) presenting with progressive joint contractures, osteochondromas, and B cell malignancy. Bustamante-Ogando et al. identified 1 patient from 1 family carrying compound heterozygous NFATC2 missense variants (p.Gly408Arg/p.Arg646Gln) presenting with severe early-onset immunodeficiency, recurrent sinopulmonary infections, bloody diarrhea, chronic lung disease, and pan-hypogammaglobulinemia. ( https://doi.org/10.70962/LASID2025abstract.69 ) Sources: Literature |
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