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  3. SPRY3
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Intellectual_disability

Gene: SPRY3

Red List (low evidence)
SPRY3 (sprouty RTK signaling antagonist 3)
EnsemblGeneIds (GRCh38): ENSG00000168939
EnsemblGeneIds (GRCh37): ENSG00000168939
OMIM: 300531, Gene2Phenotype
SPRY3 is in 1 panel

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
Tags
Pseudoautosomal region 2
OMIM
300531
Clinvar variants
Variants in SPRY3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag Pseudoautosomal region 2 tag was added to gene: SPRY3.

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SPRY3 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)