Hypogonadotropic hypogonadism
Gene: HS6ST1EnsemblGeneIds (GRCh38): ENSG00000136720
EnsemblGeneIds (GRCh37): ENSG00000136720
OMIM: 604846, Gene2Phenotype
HS6ST1 is in 1 panel
4 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
Richard Quinton (Newcastle University)
Mehul Dattani (UCL Institute of Child Health)
Louise IZATT (GSTT Clinical Genetics Service)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- Phenotypes
-
- Hypogonadotropic hypogonadism 15 with or without anosmia, 614880
- Tags
- OMIM
- 604846
- Clinvar variants
- Variants in HS6ST1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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 Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HS6ST1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for HS6ST1 were set to 21700882; 26207952; 23997646
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HS6ST1 were set to PMID: 21700882; 26207952; 23997646
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for HS6ST1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HS6ST1 were set to PMID: 26207952; 23997646
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HS6ST1 were set to PMID: 26207952
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Sarah Leigh (Genomics England Curator)HS6ST1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)HS6ST1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM