PROKR2

prokineticin receptor 2
OMIM: 607123, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green PROKR2 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy
Green PROKR2 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Green PROKR2 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.42

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • OMIM
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, 244200
  • Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
  • Kallmann Syndrome
Tags
  • monogenic-polygenic
Green PROKR2 in Hypogonadotropic hypogonadism (GMS)


Level 2: Endocrinology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia, OMIM:244200
Red PROKR2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 3 with or without anosmia 244200
Green PROKR2 in Paediatric pseudo-obstruction syndrome


Level 2: Gastrohepatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hirschsprung disease, MONDO:0018309
Red PROKR2 in Monogenic short stature


Level 2: Endocrinology
Version 1.31
Latest signed off version: v1.0 (7 Aug 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy