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Fetal anomalies

Gene: KISS1R

Red List (low evidence)

KISS1R (KISS1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000116014
EnsemblGeneIds (GRCh37): ENSG00000116014
OMIM: 604161, Gene2Phenotype
KISS1R is in 5 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Biallelic KISS1R variants cause hypogonadotropic hypogonadism. No antenatal features.
Created: 10 Jan 2022, 2:09 a.m. | Last Modified: 10 Jan 2022, 2:09 a.m.
Panel Version: 0.1933

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia 614837
OMIM
604161
Clinvar variants
Variants in KISS1R
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kiss1r has been classified as Red List (Low Evidence).

12 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KISS1R were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KISS1R was added gene: KISS1R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp 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 614837