COVID-19 research
Gene: SNX10
Recurrent infection may be present but other features predominateCreated: 7 May 2020, 12:45 p.m. | Last Modified: 7 May 2020, 12:45 p.m.
Panel Version: 0.201
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
infantile osteopetrosis
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SNX10 .PanelApp HGNC gene symbol check: SNX10 . IUIS Disease: SNX10 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with visual impairment. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic TissuesCreated: 6 Jul 2018, 12:36 p.m.
Source Expert Review Green was added to SNX10. Added phenotypes Defects in intrinsic and innate immunity; Osteopetrosis with visual impairment; Defects in Intrinsic and Innate Immunity for gene: SNX10 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SNX10 was added gene: SNX10 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNX10 were set to 32086639; 32048120 Phenotypes for gene: SNX10 were set to Defects in intrinsic and innate immunity; Osteopetrosis with visual impairment; Defects in Intrinsic and Innate Immunity