Hypogonadotropic hypogonadism
Gene: SPRY4Comment on list classification: Promoted from Red to Amber.
PMID:23643382 - 14 unrelated cases had variants in SPRY4, 3 cases had variants in other genes (DUSP6 and FGFR1).
PMID: 32389901 - 1 cases had variants in SPRY4 and PLXNA1.
Based on the available evidence, this variants in this gene may contribute to disease. Therefore this gene has been promoted from Red to Amber.Created: 1 Apr 2021, 1:43 p.m. | Last Modified: 1 Apr 2021, 1:43 p.m.
Panel Version: 1.31
Comment on list classification: Changed the rating from green to red, before promoting this panel to version 1 due to internal discussion. Because this gene only has monoallelic variants reported, it may be that studies 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, 1:26 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 1/4 sources. Three reviewers recommend Green. Eight variants reported, at least six monogenic and two polygenic cases reported PMID 23643382Created: 12 Oct 2016, 1:45 p.m.
Tag Q2_21_expert_review was removed from gene: SPRY4.
Publications for gene: SPRY4 were set to 23643382
Tag Q2_21_expert_review tag was added to gene: SPRY4.
Gene: spry4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SPRY4 were changed from Hypogonadotropic hypogonadism 17 with or without anosmia 615266 to Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
This gene has been classified as Green List (High Evidence).
Publications for SPRY4 were set to 23643382
This gene has been classified as Green List (High Evidence).
SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Literature
SPRY4All sources for gene: SPRY4 were removed
This gene has been classified as Green List (High Evidence).
Phenotypes for gene SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
SPRY4 was created by sleigh