SERPINH1

serpin family H member 1
OMIM: 600943, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SERPINH1 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
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert Review Green
    Phenotypes
    • Osteogenesis Imperfecta, Recessive
    • OI3
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • {Preterm premature rupture of the membranes, susceptibility to}, 610504
    • Osteogenesis imperfecta, type X, 613848
    Green SERPINH1 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 X, OMIM:613848
    • Osteogenesis imperfecta type 10, MONDO:0013459
    Green SERPINH1 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
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • {Preterm premature rupture of the membranes, susceptibility to}, 610504
    • Osteogenesis imperfecta, type X, 613848
    • Osteogenesis Imperfecta, Recessive
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias