1. Genes and Genomic Entities
  2. OSTM1

OSTM1

osteopetrosis associated transmembrane protein 1
OMIM: 607649, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green OSTM1 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
  • Osteopetrosis with hypocalcemia, neurologic features
Green OSTM1 in Hydrocephalus


Level 2: Neurology
Version 5.18
Latest signed off version: v5.14 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 5, OMIM:259720
Red OSTM1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.102
Latest signed off version: v9.91 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Osteopetrosis with hypocalcemia, neurologic features
  • Defects in intrinsic and innate immunity
Green OSTM1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.5
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Osteopetrosis, autosomal recessive 5 259720
    Green OSTM1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.4
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Osteopetrosis 259720
    Red OSTM1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Osteopetrosis, autosomal recessive 5, OMIM:259720
    • craniosynostosis, MONDO:0015469
    Green OSTM1 in Osteopetrosis


    Level 2: Musculoskeletal
    Version 2.3
    Latest signed off version: v2.2 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Osteopetrosis, autosomal recessive 5 OMIM:259720