Hypogonadotropic hypogonadismGene: HESX1
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.
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
Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, Septooptic dysplasia, 182230
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene HESX1 were set to Pituitary hormone deficiency, combined, 5, Growth hormone deficiency with pituitary anomalies, Septooptic dysplasia, 182230
This proposed gene was validated and added to this panel
HESX1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
HESX1 was created by mdattani