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| Autoinflammatory disorders v3.5 | PLCG1 | Ida Ertmanska Classified gene: PLCG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.5 | PLCG1 | Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals with heterozygous PLCG1 variants and an immune dysregulation disorder, including variable autoimmune feature. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.5 | PLCG1 | Ida Ertmanska Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.4 | PLCG1 |
Ida Ertmanska gene: PLCG1 was added gene: PLCG1 was added to Autoinflammatory disorders. Sources: Literature Q2_26_promote_green tags were added to gene: PLCG1. Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG1 were set to 37422272; 40862571 Phenotypes for gene: PLCG1 were set to ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514; immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790 Review for gene: PLCG1 was set to GREEN Added comment: PMID: 40862571 Ma et al., 2025 (based on pre-print mentioned in previous reviews) Report of seven individuals from 4 unrelated families with heterozygous missense variants in PLCG1: 3 individuals with de novo het variants: c.3056A>G, p.(Asp1019Gly)], [c.1139A>G, p.(His380Arg)] and [c.3494A>G, p.(Asp1165Gly)]. Individuals 4–7 are from the same family, and all carry the PLCG1 variant [c.1789C>T p.(Leu597Phe)]. Phenotypic spectrum: hearing loss (5/7, mild to profound), cardiac septal defects (3/6), and other less specific syndromic findings. Abnormal brain MRI findings in 2/3 assessed. Various immunological issues included: P3: T lymphocytopenia, recurrent pulmonary infections; P4: joint inflammation, tarsal synovitis, recurrent respiratory and lung infections, as well as inflammatory lymphadenopathy; P5: immune thrombocytopenic purpura, polyarthritis, autoimmune pulmonary fibrosis, pneumococcal sepsis with chronic thrombocytopenia and IgA and IgG2 deficiency; P6: history of recurrent upper respiratory and lung infections due to a mild IgA and IgG2 deficiency; PMID: 37422272 Tao et al., 2024 7yo female patient with a de novo p.S1021F variant in PLCG1 and early-onset immune dysregulation disease: recurrent skin ecchymosis, epistaxis and gingival bleeding, lymphadenopathy. No mention of hearing loss. Sources: Literature |
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