KISS1R

KISS1 receptor
OMIM: 604161, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green KISS1R in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.44

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)

Green KISS1R in Mendeliome


Version 1.4541

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)

Green KISS1R in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.592

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red KISS1R in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.404

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert List
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837

Green KISS1R in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.176

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)

Red KISS1R in Fetal anomalies


Version 1.542

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia 614837

Green KISS1R in Infertility and Recurrent Pregnancy Loss


Version 1.127

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837

Green KISS1R in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.82

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)