Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.9 | OTULIN |
Ida Ertmanska changed review comment from: PMID: 38630025 Davidson et al., 2024 Report of 2 patients (unrelated, 1 Caucasian and 1 Saudi family) with het p.Cys129Ser (stemming from c.385T>A or c.386G>C) change in OTULIN and a presentation consistent with OTULIN-related autoinflammatory syndrome. Authors observed accumulation of linear ubiquitin chains, increased sensitivity to TNF-induced death, and dysregulation of inflammatory signaling in patient cells. Patients presented with very early onset chronic inflammation, sterlie pustulosis, wound dehiscence. Variant is posed to have a dominant-negative effect. PMID: 38914362 Caballero-Oteyza et al., 2024 Novel homozygous missense mutation OTULIN c.595T>A; p.(Trp199Arg) detected in a Moroccan infant with an ORAS phenotype of severe, sterile systemic inflammation, panniculitis. Method: WES + Sanger. Literature review in the paper includes 9 AR ORAS, 17 OTULIN Haploinsufficiency (AR Immunodeficiency) and 3 Dominant negative ORAS cases (including one from this study).; to: PMID: 38630025 Davidson et al., 2024 Report of 2 patients (unrelated, 1 Caucasian and 1 Saudi family) with het p.Cys129Ser (stemming from c.385T>A or c.386G>C) change in OTULIN and a presentation consistent with OTULIN-related autoinflammatory syndrome. Authors observed accumulation of linear ubiquitin chains, increased sensitivity to TNF-induced death, and dysregulation of inflammatory signaling in patient cells. Patients presented with very early onset chronic inflammation, sterlie pustulosis, wound dehiscence. Variant is posed to have a dominant-negative effect. PMID: 38914362 Caballero-Oteyza et al., 2024 Novel homozygous missense mutation OTULIN c.595T>A; p.(Trp199Arg) detected in a Moroccan infant with an ORAS phenotype of severe, sterile systemic inflammation, panniculitis. Method: WES + Sanger. Literature review in the paper includes 9 AR ORAS, 17 OTULIN Haploinsufficiency (AR Immunodeficiency) and 3 Dominant negative ORAS cases (including one from this study). OMIM has associations for OTULIN-related Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, OMIM:617099 and Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, OMIM:621030 (accessed 22nd May 2026). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.9 | OTULIN | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 22nd May 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.9 | OTULIN | Ida Ertmanska Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 to Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, OMIM:617099; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, OMIM:621030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.8 | OTULIN | Ida Ertmanska Publications for gene: OTULIN were set to 27559085; 27523608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.7 | OTULIN | Ida Ertmanska Tag Q2_26_MOI tag was added to gene: OTULIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.7 | OTULIN | Ida Ertmanska commented on gene: OTULIN: Comment on mode of inheritance: There are now 3 unrelated individuals reported with heterozygous missense (putative dominant-negative) variants in OTULIN, and an ORAS-like autoinflammatory syndrome. Hence, the MOI should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal on Autoinflammatory disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.7 | OTULIN | Ida Ertmanska reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38630025, 38914362; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, OMIM:617099, Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, OMIM:621030; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.36 | OTULIN | Arina Puzriakova reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.20 | OTULIN | Arina Puzriakova Source NHS GMS was added to OTULIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.3 | OTULIN |
Arina Puzriakova gene: OTULIN was added gene: OTULIN was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTULIN were set to 27559085; 27523608 Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||