Hypogonadotropic hypogonadism
Gene: PROK2

PROK2 (prokineticin 2)
EnsemblGeneIds (GRCh38): ENSG00000163421
EnsemblGeneIds (GRCh37): ENSG00000163421
OMIM: 607002, Gene2Phenotype
PROK2 is in 3 panels

4 reviews

Richard Quinton (Newcastle University)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed the mode of inheritance from 'Both' to 'Biallelic', before promoting this panel to version 1 due to internal discussion. It may be that studies reporting monoallelic variants in this gene did not examine fully whether variants in other genes had a second variant and therefore monoallelic variants in this gene may not provide a complete diagnosis.
Created: 28 Oct 2016, 1:22 p.m.

Created: 28 Oct 2016, 1:22 p.m.

Panel version: 0.195

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Based on reports of homozygosity in the variant descriptions on the OMIM page for this gene
Created: 14 Oct 2016, 11:59 a.m.

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. Two reviewers recommend Green. Six variants reported in the literature as heterozygous, homozygous, compound heterozygous and digenic with PROKR2 gene (V115M) (PMID: 18559922)
Created: 13 Oct 2016, 8:55 a.m.

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
OMIM

Phenotypes

Hypogonadotropic hypogonadism 4 with or without anosmia, 610628
Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel

Tags

monogenic-polygenic

OMIM

607002

Clinvar variants

Variants in PROK2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

28 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PROK2 was changed to BIALLELIC, autosomal or pseudoautosomal

14 Oct 2016, Gel status: 4