Hypogonadotropic hypogonadism

Gene: HESX1

Red List (low evidence)

HESX1 (HESX homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000163666
EnsemblGeneIds (GRCh37): ENSG00000163666
OMIM: 601802, Gene2Phenotype
HESX1 is in 10 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Three different variants reported in three male Kallmann patients, but poor evidence for the pathogenicity of these variants (PMID 23465708).
Created: 2 Jun 2016, 9:05 a.m.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Associated with hypogonadotrophic hypogonadism as well as combined pituitary hormone deficiencies.
Created: 24 May 2016, 12:18 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, Septooptic dysplasia, 182230
OMIM
601802
Clinvar variants
Variants in HESX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

2 Jun 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene HESX1 were set to Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, Septooptic dysplasia, 182230

24 May 2016, Gel status: 0

Approved Gene

Sarah Leigh (Genomics England Curator)

This proposed gene was validated and added to this panel

24 May 2016, Gel status: 0

Added New Source

Mehul Dattani (UCL Institute of Child Health)

HESX1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:

24 May 2016, Gel status: 0

Created

Mehul Dattani (UCL Institute of Child Health)

HESX1 was created by mdattani