Primary immunodeficiencyGene: OSTM1
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): OSTM1 .PanelApp HGNC gene symbol check: OSTM1 . IUIS Disease: OSTM1 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, 12:31 p.m.
does not present as immunodeficiency
Created: 29 Jun 2018, 10:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source IUIS Classification December 2019 was added to OSTM1. Added phenotypes Osteopetrosis with hypocalcemia, neurologic features; Defects in intrinsic and innate immunity for gene: OSTM1 Publications for gene OSTM1 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.
Gene: ostm1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: OSTM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene OSTM1 were set to Osteopetrosis with hypocalcemia, neurologic features, Defects in Intrinsic and Innate Immunity
OSTM1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
OSTM1 was created by Louise Daugherty