COVID-19 researchGene: CLCN7
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CLCN7 .PanelApp HGNC gene symbol check: CLCN7 . IUIS Disease: CLCN7 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with hypocalcemia, neurologic features. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:13 p.m.
osteopetrosis should not be confused clinically with primary immunodeficiency
Created: 29 Jun 2018, 4:15 p.m.
Source Expert Review Green was added to CLCN7. Added phenotypes Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features for gene: CLCN7 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CLCN7 was added gene: CLCN7 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to 32086639; 32048120 Phenotypes for gene: CLCN7 were set to Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features