1. Panels
  2. Prepair 1000+
  3. HES7
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: HES7

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC 15977. Spondylocostal dysostosis (SCD) is an inherited disorder that is characterized by the presence of extensive hemivertebrae, truncal shortening and abnormally aligned ribs. Pathogenic variants in HES7 are associated with congenital defects in vertebral, heart and neural tube formation and shortened stature. Phenotype includes severe segmental defects of the vertebrae (SDV) and dextrocardia with situs inversus, rib anomalies, including reduced number/fusion. Less prevalent features can include including myelomeningocele, spina bifida occulta and/or Chiari II malformation.
Early onset, some prenatally ascertained.
OMIM reports 7 probands seen within 3 families with SCDO (4 from consanguineous Arab family, and other patients from 2 additional families (from same geographical region)). Frameshift and missense mutations reported.
Note one seminal author (Sparrow).
Created: 21 Jan 2025, 11:33 a.m. | Last Modified: 21 Jan 2025, 11:33 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 4, autosomal recessive MIM#60859

Publications

Created: 21 Jan 2025, 11:33 a.m.
Last Modified: 21 Jan 2025, 11:33 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 4, autosomal recessive MIM#60859
OMIM
608059
Clinvar variants
Variants in HES7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hes7 has been classified as Green List (High Evidence).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HES7 were changed from Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) to Spondylocostal dysostosis 4, autosomal recessive MIM#60859

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HES7 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HES7 was added gene: HES7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)