Hypogonadotropic hypogonadism
Gene: HESX1EnsemblGeneIds (GRCh38): ENSG00000163666
EnsemblGeneIds (GRCh37): ENSG00000163666
OMIM: 601802, Gene2Phenotype
HESX1 is in 9 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)
Mehul Dattani (UCL Institute of Child Health)
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
-
- Growth hormone deficiency with pituitary anomalies, OMIM:182230
- Pituitary hormone deficiency, combined, 5, OMIM:182230
- Septooptic dysplasia, OMIM:182230
- OMIM
- 601802
- Clinvar variants
- Variants in HESX1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HESX1 were changed from Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, Septooptic dysplasia, 182230 to Growth hormone deficiency with pituitary anomalies, OMIM:182230; Pituitary hormone deficiency, combined, 5, OMIM:182230; Septooptic dysplasia, OMIM:182230
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
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
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Mehul Dattani (UCL Institute of Child Health)HESX1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
Created
Mehul Dattani (UCL Institute of Child Health)HESX1 was created by mdattani