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  2. Familial Neural Tube Defects
  3. HES7
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Familial Neural Tube Defects

Gene: HES7

Red List (low evidence)
HES7 (hes family bHLH transcription factor 7)
EnsemblGeneIds (GRCh38): ENSG00000179111
EnsemblGeneIds (GRCh37): ENSG00000179111
OMIM: 608059, Gene2Phenotype
HES7 is in 3 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spondylocostal dysostosis 4
  • Spondylocostal Dysostosis
OMIM
608059
Clinvar variants
Variants in HES7
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.

25 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Sep 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

HES7 was added to Familial Neural Tube Defectspanel. Source: UKGTN

22 Sep 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

HES7 was created by oniblock

22 Sep 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

HES7 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen