Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: KISS1EnsemblGeneIds (GRCh38): ENSG00000170498
EnsemblGeneIds (GRCh37): ENSG00000170498
OMIM: 603286, Gene2Phenotype
KISS1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: KISS1 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: KISS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kiss1 has been classified as Amber List (Moderate Evidence).
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