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| Autoinflammatory disorders v0.36 | PSMB4 | Arina Puzriakova edited their review of gene: PSMB4: 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 v0.33 | PSMB4 | Arina Puzriakova Classified gene: PSMB4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.33 | PSMB4 | Arina Puzriakova Gene: psmb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.29 | PSMB4 | Arina Puzriakova Source NHS GMS was added to PSMB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.4 | PSMB4 | Arina Puzriakova reviewed gene: PSMB4: Rating: ; Mode of pathogenicity: None; Publications: 34416217, 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.4 | PSMB4 | Arina Puzriakova Tag digenic tag was added to gene: PSMB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.3 | PSMB4 |
Arina Puzriakova gene: PSMB4 was added gene: PSMB4 was added to Autoinflammatory disorders. Sources: Expert Review Amber Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB4 were set to 34416217; 26524591 Phenotypes for gene: PSMB4 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591 |
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