SERPINH1

serpin family H member 1
OMIM: 600943, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SERPINH1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.145
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Expert
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • 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

    Amber SERPINH1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type X, OMIM:613848
    • Osteogenesis imperfecta type 10, MONDO:0013459
    Tags
    • for-review

    Green SERPINH1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Green SERPINH1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteogenesis imperfecta, type X, 613848