OSTM1

osteopetrosis associated transmembrane protein 1
OMIM: 607649, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green OSTM1 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green OSTM1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green OSTM1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 5 (MIM#259720)

Green OSTM1 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 5 MIM#259720

Green OSTM1 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.20

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 5 MIM#259720

    Green OSTM1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

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

    Green OSTM1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 5, 259720 (3)

    Green OSTM1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Osteopetrosis

    Green OSTM1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Osteopetrosis, autosomal recessive 5 (MIM#259720)

    Green OSTM1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 5, 259720 (3)

    Red OSTM1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Osteopetrosis, autosomal recessive 5, MIM#259720

    Green OSTM1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 5, 259720 (3)