Pituitary hormone deficiency

Gene: PROKR2

Green List (high evidence)

PROKR2 (prokineticin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000101292
EnsemblGeneIds (GRCh37): ENSG00000101292
OMIM: 607123, Gene2Phenotype
PROKR2 is in 7 panels

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:05 p.m.
Comment on list classification: Promoted from red to green. PROKR2 is confirmed to be associated with Hypogonadotropic hypogonadism 3 with or without anosmia in OMIM but not in Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with growth/pituitary hormone deficiency who have variants in this gene.
Created: 12 Dec 2018, 11:21 a.m.

Details

Mode of Inheritance
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)
OMIM
607123
Clinvar variants
Variants in PROKR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: prokr2 has been classified as Green List (High Evidence).

12 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: prokr2 has been classified as Green List (High Evidence).

12 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PROKR2 were set to

7 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: PROKR2 was added gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)