PROKR2

prokineticin receptor 2
OMIM: 607123, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PROKR2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200

Green PROKR2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200

Amber PROKR2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200

Green PROKR2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200

Green PROKR2 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia (244200)

Green PROKR2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism

Red PROKR2 in Growth failure


Version 1.76

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200
  • Kallmann syndrome (KS)
  • normosmic idiopathic hypogonadotropic hypogonadism (nIHH)
  • Anosmia
  • GnRH deficiency
  • cleft lip and palate
  • renal agenesis
  • Hypogonadotropic hypogonadism
  • low testosterone/ estradiol
  • Absent/ partial Puberty
  • Hearing loss

Red PROKR2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200