Primary immunodeficiencyGene: SNX10
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 Tissues
Created: 6 Jul 2018, 12:36 p.m.
Source IUIS Classification December 2019 was added to SNX10. Mode of inheritance for gene SNX10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Osteopetrosis with visual impairment; Defects in intrinsic and innate immunity for gene: SNX10 Publications for gene SNX10 were updated from to 32048120; 32086639
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene SNX10 were set to Osteopetrosis with visual impairment, Defects in Intrinsic and Innate Immunity
SNX10 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
SNX10 was created by Louise Daugherty