SERPINF1

serpin family F member 1
OMIM: 172860, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SERPINF1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • Expert
    Phenotypes
    • Osteogenesis imperfecta, type VI, 613982
    • osteogenesis imperfecta
    • OI/osteoporosis
    • Osteogenesis Imperfecta, Recessive
    Green SERPINF1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type VI, OMIM:613982
    • Osteogenesis imperfecta type 6, MONDO:0013515
    Green SERPINF1 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Osteogenesis imperfecta, type VI, 613982
    • Osteogenesis Imperfecta, Recessive
    • osteogenesis imperfecta