Hypogonadotropic hypogonadism (GMS)
Gene: KISS1REnsemblGeneIds (GRCh38): ENSG00000116014
EnsemblGeneIds (GRCh37): ENSG00000116014
OMIM: 604161, Gene2Phenotype
KISS1R is in 4 panels
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
May be complicated by oligogenic inheritanceCreated: 22 Mar 2019, 5:03 p.m.
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Hypogonadotropic hypogonadism 8 with or without anosmia, OMIM:614837
- OMIM
- 604161
- Clinvar variants
- Variants in KISS1R
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KISS1R were changed from Hypogonadotropic hypogonadism type 8 (OMIM 614837) to Hypogonadotropic hypogonadism 8 with or without anosmia, OMIM:614837
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: kiss1r has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to KISS1R.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 8 (OMIM 614837) for gene: KISS1R
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: KISS1R was added gene: KISS1R was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal