SP7

Sp7 transcription factor
OMIM: 606633, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SP7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.208
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Expert
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Osteogenesis imperfecta, type XII 613849

    Green SP7 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Osteogenesis imperfecta, type XII, OMIM:613849
    • Osteogenesis imperfecta type 12, MONDO:0013460

    Green SP7 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.48
    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
    • Osteogenesis imperfecta, type XII, 613849
    • Osteogenesis Imperfecta, Recessive
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias