Skeletal Dysplasia_Fetal
Gene: HES7

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Total of 6 families (3 of whom share the same indel variant).
Created: 7 Nov 2021, 11:44 p.m. | Last Modified: 7 Nov 2021, 11:44 p.m.

Panel Version: 0.139

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 4, autosomal recessive MIM#613686

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Nov 2021, 11:44 p.m.
Last Modified: 7 Nov 2021, 11:44 p.m.
Panel version: Imported from Fetal anomalies panel version 0.139

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

608059

Clinvar variants

Variants in HES7

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HES7 was added gene: HES7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HES7 was set to Unknown

Skeletal Dysplasia_Fetal Gene: HES7