Hypogonadotropic hypogonadism

Gene: SPRY4

Amber List (moderate evidence)

SPRY4 (sprouty RTK signaling antagonist 4)
EnsemblGeneIds (GRCh38): ENSG00000187678
EnsemblGeneIds (GRCh37): ENSG00000187678
OMIM: 607984, Gene2Phenotype
SPRY4 is in 2 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
  • Expert Review Amber
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Expert list
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

1 Apr 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SPRY4 were set to 23643382

1 Apr 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: SPRY4.

1 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: spry4 has been classified as Amber List (Moderate Evidence).

1 Apr 2021, Gel status: 1

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

28 Oct 2016, Gel status: 1

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.

28 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SPRY4 were set to 23643382

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Literature

26 May 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

SPRY4All sources for gene: SPRY4 were removed

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266

17 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Source: Radboud University Medical Center, Nijmegen

17 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SPRY4 was created by sleigh

17 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SPRY4 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM