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| Systemic Autoinflammatory Disease_Periodic Fever v1.36 | PSMA5 | Zornitza Stark Marked gene: PSMA5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.36 | PSMA5 | Zornitza Stark Gene: psma5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.36 | PSMA5 | Zornitza Stark Phenotypes for gene: PSMA5 were changed from PRAAS/CANDLE to Inborn error of immunity, MONDO:0003778, PSMA5-related; PRAAS/CANDLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.35 | PSMA5 | Zornitza Stark Classified gene: PSMA5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.35 | PSMA5 | Zornitza Stark Gene: psma5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.12 | PSMA5 |
Peter McNaughton gene: PSMA5 was added gene: PSMA5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: PSMA5 was set to Other Publications for gene: PSMA5 were set to PMID: 37600812 Phenotypes for gene: PSMA5 were set to PRAAS/CANDLE Review for gene: PSMA5 was set to RED Added comment: Single patient with heterozygous PSMB8 variant and de-novo PSMA5 truncating variant (p.Arg168*) with clinical features of CANDLE. Patient also had splice site variant in PSMC5. In silico modelling showing interaction of PSMB8 and PSMA5. PSMA5/a5 is a constitutive component of the 20S core proteasome, ? digenic model of disease. Sources: Literature |
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