DHRS3

dehydrogenase/reductase 3
OMIM: 612830, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber DHRS3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.196
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • coronal craniosynostosis, dysmorphic facial features, congenital heart disease, scoliosis
Red DHRS3 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.4
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review
Phenotypes
  • coronal craniosynostosis, septal heart defects
Red DHRS3 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • DHRS3 related craniosynostosis