Activity
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| Arthrogryposis v10.20 | NFATC2 | Achchuthan Shanmugasundram Classified gene: NFATC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.20 | NFATC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one patient reported with biallelic NFATC2 variants and with joint contractures. Hence, this gene should be rated red with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.20 | NFATC2 | Achchuthan Shanmugasundram Gene: nfatc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.19 | NFATC2 | Achchuthan Shanmugasundram Phenotypes for gene: NFATC2 were changed from ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232; joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369; lymphoproliferative syndrome, MONDO:0016537 to ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232; joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.18 | NFATC2 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: NFATC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.18 | NFATC2 |
Achchuthan Shanmugasundram changed review comment from: PMID:35789258 (2022) reported the first patient with complete NFAT1 (NFATC2) deficiency identified with a homozygous frameshift variant (c.2023_2026delTACC; p.Tyr675Thrfs*18). The patient presented with presented with joint contractures, osteochondromas, and recurrent B-cell lymphoma, and immune profile showed accumulation of naïve B cells with oncogenic signatures (MYC, JAK1), exhausted CD4+ T cells, impaired T follicular helper cells, aberrant CD8+ T cells. PMID:38427060 (2024) reported a 12-year-old female patient identified with a homozygous 6bp in-frame deletion (c.340_345delGAGATC; p.Glu114_Ile115del) and presenting with EBV-associated lymphoproliferation without skeletal involvement. This patient had recurrent chest infections, chronic wet cough, failure to thrive, generalised lymphadenopathy and severe hypogammaglobulinemia. The father and the healthy brother of the patient were heterozygous for the variant. As reviewed by Boaz Palterer, Bustamante-Ogando et al (2025) reported in a conference abstract (NOT a peer-reviewed manuscript) of a 12-year-old female patient with a severe, early-onset immunodeficiency characterised by recurrent sinopulmonary infections, bloody diarrhoea, chronic lung disease, and profound failure to thrive. Immunological analysis revealed anaemia and thrombocytosis, as well as pan-hypogammaglobulinemia, with reduced CD4+ and CD8+ T cells. Whole exome sequencing identified two novel, ultra-rare, highly conserved compound heterozygous missense variants in NFATC2 (p.Gly408Arg & p.Arg646Gln). This gene has been provisionally associated with MIM #620232 in OMIM (last accessed 11 August 2024).; to: PMID:35789258 (2022) reported the first patient with complete NFAT1 (NFATC2) deficiency identified with a homozygous frameshift variant (c.2023_2026delTACC; p.Tyr675Thrfs*18). The patient presented with presented with joint contractures, osteochondromas, and recurrent B-cell lymphoma, and immune profile showed accumulation of naïve B cells with oncogenic signatures (MYC, JAK1), exhausted CD4+ T cells, impaired T follicular helper cells, aberrant CD8+ T cells. PMID:38427060 (2024) reported a 12-year-old female patient identified with a homozygous 6bp in-frame deletion (c.340_345delGAGATC; p.Glu114_Ile115del) and presenting with EBV-associated lymphoproliferation without skeletal involvement. This patient had recurrent chest infections, chronic wet cough, failure to thrive, generalised lymphadenopathy and severe hypogammaglobulinemia. The father and the healthy brother of the patient were heterozygous for the variant. As reviewed by Boaz Palterer, Bustamante-Ogando et al (2025) reported in a conference abstract (NOT a peer-reviewed manuscript) of a 12-year-old female patient with a severe, early-onset immunodeficiency characterised by recurrent sinopulmonary infections, bloody diarrhoea, chronic lung disease, and profound failure to thrive. Immunological analysis revealed anaemia and thrombocytosis, as well as pan-hypogammaglobulinemia, with reduced CD4+ and CD8+ T cells. Whole exome sequencing identified two novel, ultra-rare, highly conserved compound heterozygous missense variants in NFATC2 (p.Gly408Arg & p.Arg646Gln). This gene has been provisionally associated with MIM #620232 in OMIM (last accessed 11 August 2024). |
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| Arthrogryposis v10.18 | NFATC2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.18 | NFATC2 | Achchuthan Shanmugasundram edited their review of gene: NFATC2: Changed rating: RED; Changed phenotypes to: ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232, joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.18 | NFATC2 | Achchuthan Shanmugasundram Entity copied from Primary immunodeficiency or monogenic inflammatory bowel disease v9.102 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v10.18 | NFATC2 |
Achchuthan Shanmugasundram gene: NFATC2 was added gene: NFATC2 was added to Arthrogryposis. Sources: Expert Review Amber,Literature watchlist tags were added to gene: NFATC2. Mode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC2 were set to 35789258; 38427060 Phenotypes for gene: NFATC2 were set to ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232; joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369; lymphoproliferative syndrome, MONDO:0016537 Penetrance for gene: NFATC2 were set to unknown |
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