Hypogonadotropic hypogonadism
Gene: PROKR2
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, 12:01 p.m.
Comment when marking as ready: Comment when marking as ready: Associated with phenotype in OMIM and not in G2P. Found in 3/4 sources. At least nine variants reported six as heterozygotes, three as compound heterozygotes one of these digenic with a KAL1 (ANOS1) variant. One expert reviewer recommends GreenCreated: 13 Oct 2016, 9:22 a.m.
Publications for PROKR2 were set to 17054399
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 PROKR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for PROKR2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene PROKR2 were set to 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
PROKR2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Illumina TruGenome Clinical Sequencing Services
PROKR2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
PROKR2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Emory Genetics Laboratory
PROKR2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
PROKR2 was created by sleigh