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| Disorders of immune dysregulation v0.186 | LIG4 | Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.170 | LIG4 | Zornitza Stark Marked gene: LIG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.170 | LIG4 | Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.170 | LIG4 | Zornitza Stark Phenotypes for gene: LIG4 were changed from Immune dysregulation to LIG4 syndrome, MIM# 606593; Immune dysregulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.169 | LIG4 | Zornitza Stark Classified gene: LIG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.169 | LIG4 | Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.168 | LIG4 |
Peter McNaughton gene: LIG4 was added gene: LIG4 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: LIG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LIG4 were set to PMID: 37004747 Phenotypes for gene: LIG4 were set to Immune dysregulation Mode of pathogenicity for gene: LIG4 was set to Other Review for gene: LIG4 was set to GREEN Added comment: 2 variants (p.R580Q, p.A842D) in unrelated patients associated with a dominantly inherited familial immune-dysregulation consisting of autoimmune cytopenias, lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organ. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient. Sources: Literature |
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