Differences of Sex Development
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.
Sources: Expert listCreated: 18 Jul 2020, 9:52 a.m.
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
- Expert list
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KISS1 was added gene: KISS1 was added to Disorders of Sex Differentiation. Sources: Expert list Mode of inheritance for gene: KISS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KISS1 were set to 22335740; 25783047; 22766261; 17563351 Phenotypes for gene: KISS1 were set to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842 Review for gene: KISS1 was set to AMBER