Research panel - Severe Paediatric Disorders
Gene: HESX1

HESX1 (HESX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000163666
EnsemblGeneIds (GRCh37): ENSG00000163666
OMIM: 601802, Gene2Phenotype
HESX1 is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HESX1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Growth hormone deficiency with pituitary anomalies, 182230 (3) | Pituitary hormone deficiency, combined, 5, 182230 (3) | Septooptic dysplasia, 182230 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Pituitary hormone deficiency, combined, 5, 182230
Growth hormone deficiency with pituitary anomalies, 182230
Septooptic dysplasia, 182230

OMIM

601802

Clinvar variants

Variants in HESX1

Penetrance

None

Publications

30847515

Panels with this gene