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| COVID-19 research v1.103 | PSMB8 | Arina Puzriakova Phenotypes for gene: PSMB8 were changed from Other autoinflammatory diseases with known genetic defect; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; Autoinflammation, lipodystrophy, and dermatosis syndrome 256040; CANDLE syndrome to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Autoinflammation, lipodystrophy, and dermatosis syndrome; Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; CANDLE syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.103 | PSMB8 | Ivone Leong reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32086639, 32048120; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.102 | PSMB8 |
Ivone Leong Source IUIS Classification December 2027 was added to PSMB8. Mode of inheritance for gene PSMB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| COVID-19 research v0.36 | PSMB8 |
Ellen McDonagh gene: PSMB8 was added gene: PSMB8 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 21129723; 21953331; 21852578; 21881205 Phenotypes for gene: PSMB8 were set to Other autoinflammatory diseases with known genetic defect; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Contractures, panniculitis, ICC, fevers; Autoinflammatory Disorders; Autoinflammation, lipodystrophy, and dermatosis syndrome 256040; CANDLE syndrome |
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