Intellectual_disability
Gene: P2RY8

P2RY8 (P2Y receptor family member 8)
EnsemblGeneIds (GRCh38): ENSG00000182162
EnsemblGeneIds (GRCh37): ENSG00000182162
OMIM: 300525, Gene2Phenotype
P2RY8 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 1

OMIM

300525

Clinvar variants

Variants in P2RY8

Penetrance

Complete

Publications

PMID: 26350204

Panels with this gene

Intellectual disability

History Filter Activity

4 Nov 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag Pseudoautosomal region 1 tag was added to gene: P2RY8.

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

P2RY8 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)