Hypogonadotropic hypogonadism idiopathic

Gene: SPRY4

Amber List (moderate evidence)

SPRY4 (sprouty RTK signaling antagonist 4)
EnsemblGeneIds (GRCh38): ENSG00000187678
EnsemblGeneIds (GRCh37): ENSG00000187678
OMIM: 607984, Gene2Phenotype
SPRY4 is in 3 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 23643382
Created: 12 Oct 2016, 1:45 p.m.

Richard Quinton (Newcastle University)

Green List (high evidence)

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
Phenotypes
  • Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266
Tags
monogenic-polygenic Q2_21_expert_review
OMIM
607984
Clinvar variants
Variants in SPRY4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Dec 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ivone Leong (Genomics England Curator)

gene: SPRY4 was added gene: SPRY4 was added to Hypogonadotropic hypogonadism idiopathic. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Expert list,Literature monogenic-polygenic, Q2_21_expert_review tags were added to gene: SPRY4. Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRY4 were set to 23643382; 32389901 Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, OMIM:615266 Penetrance for gene: SPRY4 were set to Complete