HES7

hes family bHLH transcription factor 7
OMIM: 608059, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HES7 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green HES7 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive MIM#613686

Green HES7 in Spondylocostal Dysostosis


Level 2: Skeletal disorders
Version 0.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green HES7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive 613686

Green HES7 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)

Green HES7 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive 613686

Green HES7 in Prepair 1000+


Level 2: Screening
Version 1.1586

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive MIM#60859