Hypogonadotropic hypogonadism
Gene: HS6ST1Comment on mode of inheritance: Inconclusive report of monogenic inheritance and reported in 5/6 cases in the presence of variant(s) in other relevant genesCreated: 12 Oct 2016, 3:21 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 0/4 sources. Three reviewers recommend Green. Five risk variants on ClinVar and one likely pathogenic.Created: 26 May 2016, 12:06 p.m.
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).
Mode of inheritance for HS6ST1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for HS6ST1 were set to 21700882; 26207952; 23997646
Publications for HS6ST1 were set to PMID: 21700882; 26207952; 23997646
Mode of inheritance for HS6ST1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for HS6ST1 were set to PMID: 26207952; 23997646
Publications for HS6ST1 were set to PMID: 26207952
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
HS6ST1 was created by sleigh
HS6ST1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM