Hypogonadotropic hypogonadism idiopathic

Gene: KISS1R

Green List (high evidence)

KISS1R (KISS1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000116014
EnsemblGeneIds (GRCh37): ENSG00000116014
OMIM: 604161, Gene2Phenotype
KISS1R is in 4 panels

2 reviews

Simon Thomas (Wessex Regional Genetics Laboratory)

Green List (high evidence)

May be complicated by oligogenic inheritance
Created: 22 Mar 2019, 5:03 p.m.

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

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 type 8 (OMIM 614837)
OMIM
604161
Clinvar variants
Variants in KISS1R
Penetrance
None
Panels with this gene

History Filter Activity

22 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: kiss1r has been classified as Green List (High Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to KISS1R.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hypogonadotropic hypogonadism type 8 (OMIM 614837) for gene: KISS1R

15 Mar 2019, Gel status: 1

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