Hypogonadotropic hypogonadism
Gene: PROK2
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.
Comment on mode of inheritance: Based on reports of homozygosity in the variant descriptions on the OMIM page for this geneCreated: 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.
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.
Mode of inheritance for PROK2 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for PROK2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for PROK2 were set to 17959774; 17054399; 18559922
Publications for PROK2 were set to 17959774; 17054399
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628;Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel
PROK2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
PROK2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
PROK2 was created by sleigh
PROK2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM