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  3. SPRY4
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Differences of Sex Development

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

14 unrelated individuals reported originally. Three of these had variants in other IHH genes. The p.Lys177Arg variant is present in 454 individuals in gnomad, p.Ser241Tyr is present in 1279 individuals including 6 homozygotes, p.Val304Ile is present in 457 individuals. These population frequencies cast doubt on the gene-disease relationship.
Sources: Expert list
Created: 18 Jul 2020, 10:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266

Publications

Created: 18 Jul 2020, 10:04 a.m.

Panel version: 0.155

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Tags
disputed
OMIM
607984
Clinvar variants
Variants in SPRY4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2020, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SPRY4.

18 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPRY4 was added gene: SPRY4 was added to Disorders of Sex Differentiation. Sources: Expert list Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPRY4 were set to 23643382 Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266 Review for gene: SPRY4 was set to AMBER