Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: KISS1

Amber List (moderate evidence)

KISS1 (KiSS-1 metastasis-suppressor)
EnsemblGeneIds (GRCh38): ENSG00000170498
EnsemblGeneIds (GRCh37): ENSG00000170498
OMIM: 603286, Gene2Phenotype
KISS1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Reported in Turkish families, supportive mouse model, but no variants identified in other cohorts. Role of KISS1 receptor much more established.
Created: 18 Jul 2020, 9:56 a.m. | Last Modified: 18 Jul 2020, 9:56 a.m.
Panel Version: 0.3400

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
OMIM
603286
Clinvar variants
Variants in KISS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kiss1 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842

11 Dec 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: KISS1 were set to

11 Dec 2020, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: KISS1 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kiss1 has been classified as Amber List (Moderate Evidence).

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: KISS1 was added gene: KISS1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KISS1 was set to