Hypogonadotropic hypogonadism
Gene: SPRY4EnsemblGeneIds (GRCh38): ENSG00000187678
EnsemblGeneIds (GRCh37): ENSG00000187678
OMIM: 607984, Gene2Phenotype
SPRY4 is in 4 panels
6 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Ellen McDonagh (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Richard Quinton (Newcastle University)
Mehul Dattani (UCL Institute of Child Health)
Louise IZATT (GSTT Clinical Genetics Service)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266
- Tags
- OMIM
- 607984
- Clinvar variants
- Variants in SPRY4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_expert_review was removed from gene: SPRY4.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SPRY4 were set to 23643382
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: SPRY4.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: spry4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)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
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for SPRY4 were set to 23643382
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Literature
clearsources
Sarah Leigh (Genomics England Curator)SPRY4All sources for gene: SPRY4 were removed
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
Added New Source
Sarah Leigh (Genomics England Curator)SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
Created
Sarah Leigh (Genomics England Curator)SPRY4 was created by sleigh