HES7

hes family bHLH transcription factor 7
OMIM: 608059, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red HES7 in Familial Neural Tube Defects


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylocostal dysostosis 4
  • Spondylocostal Dysostosis
Green HES7 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
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 Review Green
    Phenotypes
    • Spondylocostal dysostosis 4, autosomal recessive 613686
    Green HES7 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
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Spondylocostal dysostosis 4, autosomal recessive 613686