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Newborns main panel

Gene: KISS1R

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 37814704 - 2 cases. PMID: 23349759 - 2 families PMID: 31885997 - reference >15 cases
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia
OMIM
604161
Clinvar variants
Variants in KISS1R
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: KISS1R was added gene: KISS1R was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia