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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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