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| 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 v9.20 | SENP7 |
Ida Ertmanska gene: SENP7 was added gene: SENP7 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SENP7 were set to 37460201; 38972567; 39763084 Phenotypes for gene: SENP7 were set to arthrogryposis multiplex congenita, MONDO:0015168 Review for gene: SENP7 was set to GREEN Added comment: PMID: 37460201 Samra et al., 2023 Report of a consanguineous family with 4 affected patients harbouring a homozygous variant SENP7 c.1474C>T; p.(Gln492*). All 4 individuals died before 4 months of age (1 fetal death). Clinical presentation included congenital arthrogryposis (3/3), failure to thrive (3/3), early respiratory failure, neutropenia (2/3), hypotonia (3/3) and recurrent infections. PMID: 38972567 Kobayashi et al., 2024 Described four infants from three consanguineous unrelated families of Guatemalan, Arab and Turkish ethnicities. Affected individuals presented with a multisystemic disorder, including hypogammaglobulinemia, neutropenia (4/4), recurrent infection (4/4), neurologic features, arthrogryposis (confirmed in 2 cases - upper extremities) and uniform early fatality (all individuals died at 5-10 months of age). F1: homozygous SENP7 c.2641C>T, p.Q881X F2: homozygous SENP7 c.880G>T, p.E294X F3: homozygous SENP7 c.973C>T, p.Q325X Heterozygosity of parents confirmed by Sanger seq. PMID: 39763084 Saad et al., 2025 Consanguineous Egyptian family with history of three fetal deaths. WES detected a homozygous SENP7 variant in affected individuals: c.745C>T, p.(Arg249*). Shared presentation included arthrogryposis multiplex congenita, CNS malformations, congenital heart disease, and renal anomalies. This gene is not yet associated with a disease entity in OMIM (accessed 17th Feb 2026). Sources: Literature |
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| Arthrogryposis | AGL | Alice Gardham marked AGL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||