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| COVID-19 research v1.105 | RBCK1 | Arina Puzriakova Phenotypes for gene: RBCK1 were changed from Other autoinflammatory diseases with known genetic defect; HOIL1 deficiency; Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.36 | RBCK1 |
Ellen McDonagh gene: RBCK1 was added gene: RBCK1 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: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBCK1 were set to 23104095; 29260357 Phenotypes for gene: RBCK1 were set to Other autoinflammatory diseases with known genetic defect; HOIL1 deficiency; Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895; Bacterial infections, autoinflammation, amylopectinosis; Combined immunodeficiencies with associated or syndromic features |
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