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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.
Created: 26 May 2016, 9:22 a.m.

Panel version: 0.21

Richard Quinton (Newcastle University)

Green List (high evidence)

Created: 24 May 2016, 1:02 p.m.

Panel version: 0.2

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:16 p.m.

Panel version: 0.2

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, OMIM:614837
  • ?Precocious puberty, central, 1, OMIM:176400
Tags
monogenic-polygenic
OMIM
604161
Clinvar variants
Variants in KISS1R
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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