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| Autoinflammatory disorders v2.38 | PSMB10 |
Ida Ertmanska gene: PSMB10 was added gene: PSMB10 was added to Autoinflammatory disorders. Sources: Literature Q1_26_promote_green tags were added to gene: PSMB10. Mode of inheritance for gene: PSMB10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PSMB10 were set to 31783057; 36250618; 37600812; 38503300; 39734035 Phenotypes for gene: PSMB10 were set to Immunodeficiency 121 with autoinflammation, OMIM:620807; Proteasome-associated autoinflammatory syndrome 5, OMIM:619175 Review for gene: PSMB10 was set to GREEN Added comment: MONOALLELIC CASES: PMID: 36250618 Hebert et al., 2022 Patient 1 - severe combined immunodeficiency (SCID), ectodermal dysplasia, alopecia, hypodontia and anonychia; het de novo PSMB10 NM_002801.3: c.601G>A p.(Gly201Arg) variant. PMID: 38503300 van der Made et al., 2024 Identified de novo PSMB10 mutations in 6 infants with SCID-Omenn syndrome. The syndromic presentation includes severe combined immunodeficiency (SCID), as well as diarrhea (6/6), alopecia (4/5), and desquamating erythematous rash (6/6). Reported variants: PSMB10: c.166G>C, p.Asp56His and c.601G>A/c.601G>C, p.Gly201Arg. PMID: 39734035 Kuehn et al., 2025 Case report: white female with SCID, failure to thrive, diarrhea, and pruritic rash - symptom onset at 5-9 months. Trio WES identified a de novo PSMB10 variant in the proband: c.601G>A, p.Gly201Arg. https://doi.org/10.70962/jhi.20250096 Fournier et al., 2025 Report of 3 patients with WES detected de novo heterozygous PSMB10 variants: c.614A>C p.Asp205Ala for PI and c.623C>T p.Ser208Phe for PII and PIII. Presentation: combined immunodeficiency (3/3), generalized erythroderma with desquamation (1/3), chronic diarrhea (2/3), severe liver disease (2/3). Functional evidence: PSMB10 constructs were expressed in HEK293T cells prior to SDS-PAGE/western blotting analysis. The p.Asp205Ala and p.Ser208Phe PSMB10 variants were shown to impair proteasome assembly and exert dominant-negative effects on PSMB9 expression. BIALLELIC CASES: PMID: 31783057 Sarrabay et al., 2020 3yo girl with a proteasome-associated autoinflammatory syndrome, homozygous for a PSMB10 c.41T>C, p.Phe14Ser variant. She presented with failure to thrive, cutaneous rash, and hepatosplenomegaly. No immunodeficiency. PMID: 37600812 Papendorf et al., 2023 Three unrelated Brazilian patients present with four novel PSMB10 variants. All share the p.Phe14del variant plus a different novel variant: p.Gly167Asp, p.Cys83Leufs*123, and c.710+1G>C. All 3 patients had skin lesions, recurrent fevers, failure to thrive; microcytic anemia ascertained in 2/3. PSMB10 is now associated with AD Immunodeficiency 121 with autoinflammation, MIM:620807 & AR Proteasome-associated autoinflammatory syndrome 5, MIM:619175 (OMIM accessed 10th Mar 2026). Sources: Literature |
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| Autoinflammatory disorders v0.36 | PSMB9 | Arina Puzriakova Tag digenic tag was added to gene: PSMB9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.36 | PSMB9 | Arina Puzriakova edited their review of gene: PSMB9: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.34 | PSMB9 | Arina Puzriakova Classified gene: PSMB9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.34 | PSMB9 | Arina Puzriakova Gene: psmb9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.30 | PSMB9 | Arina Puzriakova Source NHS GMS was added to PSMB9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.6 | PSMB9 | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as all cases reported to date have harboured heterozygous variants in this gene (PMID: 26524591; 33727065; 34819510) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.6 | PSMB9 | Arina Puzriakova Mode of inheritance for gene: PSMB9 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.5 | PSMB9 | Arina Puzriakova Publications for gene: PSMB9 were set to 26524591; 33727065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.4 | PSMB9 | Arina Puzriakova reviewed gene: PSMB9: Rating: ; Mode of pathogenicity: None; Publications: 26524591, 33727065, 34819510; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.3 | PSMB9 |
Arina Puzriakova gene: PSMB9 was added gene: PSMB9 was added to Autoinflammatory disorders. Sources: Expert Review Amber Mode of inheritance for gene: PSMB9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB9 were set to 26524591; 33727065 Phenotypes for gene: PSMB9 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591 |
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