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Primary immunodeficiency

Gene: OSTM1

Red List (low evidence)

OSTM1 (osteopetrosis associated transmembrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000081087
EnsemblGeneIds (GRCh37): ENSG00000081087
OMIM: 607649, Gene2Phenotype
OSTM1 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

I don't know

does not present as immunodeficiency
Created: 29 Jun 2018, 10:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
  • Defects in Intrinsic and Innate Immunity
  • Osteopetrosis with hypocalcemia, neurologic features
  • Defects in intrinsic and innate immunity
Clinvar variants
Variants in OSTM1
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ostm1 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: OSTM1 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene OSTM1 were set to Osteopetrosis with hypocalcemia, neurologic features, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

OSTM1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1


Louise Daugherty (Genomics England Curator)

OSTM1 was created by Louise Daugherty