Hypogonadotropic hypogonadism

Gene: KISS1R

Green List (high evidence)

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

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. Seven variants reported as follows: two homozygotes, four as conmpound heterozygotes and one digenic with an IL17RD variant. Three reviewers recommend Green
Created: 12 Oct 2016, 2:40 p.m.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia, 614837
  • Precocious puberty, central, 1, (AD), 176400
Tags
monogenic-polygenic
OMIM
604161
Clinvar variants
Variants in KISS1R
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

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.

12 Oct 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KISS1R were set to 12944565; 17164310; 14573733; 18772143; 23643382

12 Oct 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KISS1R were set to 12944565; 17164310; 14573733; 18772143

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837; Precocious puberty, central, 1, (AD), 176400

26 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837; Precocious puberty, central, 1, (AD), 176400

26 May 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Other

26 May 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

KISS1RAll sources for gene: KISS1R were removed

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KISS1R were set to 12944565; 17164310; 14573733

26 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Precocious puberty,central,1,176400

26 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia, 614837;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory); Precocious puberty,central,1,176400

17 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

KISS1R was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KISS1R was created by sleigh