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| COVID-19 research v0.103 | C1S | Ivone Leong reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: 32086639, 32048120; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.102 | C1S |
Ivone Leong Source IUIS Classification December 2021 was added to C1S. Mode of inheritance for gene C1S was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| COVID-19 research v0.36 | BLOC1S6 |
Ellen McDonagh gene: BLOC1S6 was added gene: BLOC1S6 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services, London North GLH,GRID V2.0,NHS GMS,GRID V2.0North West GLH,Expert Review Red Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S6 were set to 224,614,752,030,146,000,000,000 Phenotypes for gene: BLOC1S6 were set to Immune Dysregulation; Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect) |
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| COVID-19 research v0.36 | C1S |
Ellen McDonagh gene: C1S was added gene: C1S 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: C1S was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1S were set to 27745832; 11390518; 20727163; 9856483 Phenotypes for gene: C1S were set to SLE; pyogenic infections; Complement component 1 deficiency; SLE, infections with encapsulated organisms, Ehlers Danlos phenotype; Complement Deficiencies; C1s deficiency, 613783; C1s deficiency, Lupus |
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| COVID-19 research v0.36 | C1R |
Ellen McDonagh gene: C1R was added gene: C1R 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: C1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1R were set to 28544690; 21784777; 27745832; 29795138; 28711143 Phenotypes for gene: C1R were set to SLE; pyogenic infections; Complement component 1 deficiency; SLE, infections with encapsulated organisms, Ehlers Danlos phenotype; Complement Deficiencies; C1r/C1s deficiency, combined, Lupus; Immunodeficiency due to a classical component pathway complement deficiency |
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