IFITM5

interferon induced transmembrane protein 5
OMIM: 614757, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green IFITM5 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • Emory Genetics Laboratory
    • Eligibility statement prior genetic testing
    Phenotypes
    • Osteogenesis imperfecta, type V 610967
    Green IFITM5 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OSTEOGENESIS IMPERFECTA TYPE V
    Green IFITM5 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteogenesis imperfecta, type V, 610967
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • c-14C>T IFITM5 testing
    Green IFITM5 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OSTEOGENESIS IMPERFECTA TYPE V 610967
    Red IFITM5 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.23
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Osteogenesis imperfecta, type V, 610967