1. Panels
  2. Disorders of immune dysregulation
  3. P2RY8
STRs in panel
Prev Next
Regions in panel
Prev Next

Disorders of immune dysregulation

Gene: P2RY8

Amber List (moderate evidence)
P2RY8 (P2Y receptor family member 8)
EnsemblGeneIds (GRCh38): ENSG00000182162
EnsemblGeneIds (GRCh37): ENSG00000182162
OMIM: 300525, Gene2Phenotype
P2RY8 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One de novo variant, p.Leu257Phe, absent from gnomAD v4.

p. Asn97Lys, inherited from mother, present in 19 individuals in gnomADv4.

p.Glu323Gly identified in 6 Chinese individuals, inheritance not determined, present in 51 individuals in gnomADv4.

Functional data support the role of the gene in immune tolerance. Role in contributing to the development of SLE is plausible, though not necessarily under a monogenic model.
Created: 27 Dec 2024, 3:02 a.m. | Last Modified: 27 Dec 2024, 3:02 a.m.
Panel Version: 1.1

Phenotypes
Systemic lupus erythematosus, MONDO:0007915, P2RY8-related

Created: 27 Dec 2024, 3:02 a.m.
Last Modified: 27 Dec 2024, 3:02 a.m.
Panel version: 1.1

Natasha Brown (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 34889940
Six unrelated pts, rare/ultra rare missense variants with some functional validation
denovo (p.Leu257Phe) x1
N97K (c.291C>G;) x1, inheritance unknown

E323G (c.968A>G), in six unrelated SLE patients, all of Chinese ethnicity (note there are several entries in Gnomad for this variant in the SE Asian community) - incomplete penetrance

P2RY8 L257F and N97K variants show reduced inhibition of
AKT and ERK
Sources: Literature
Created: 23 Dec 2024, 3:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
systemic lupus erythematosis; vasculitis; nephritis

Publications

Created: 23 Dec 2024, 3:14 a.m.

Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Systemic lupus erythematosus, MONDO:0007915, P2RY8-related
OMIM
300525
Clinvar variants
Variants in P2RY8
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

27 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p2ry8 has been classified as Amber List (Moderate Evidence).

27 Dec 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: P2RY8 were changed from systemic lupus erythematosis; vasculitis; nephritis to Systemic lupus erythematosus, MONDO:0007915, P2RY8-related

27 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p2ry8 has been classified as Amber List (Moderate Evidence).

23 Dec 2024, Gel status: 0

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

Natasha Brown (Victorian Clinical Genetics Services)

gene: P2RY8 was added gene: P2RY8 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: P2RY8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: P2RY8 were set to 34889940 Phenotypes for gene: P2RY8 were set to systemic lupus erythematosis; vasculitis; nephritis Penetrance for gene: P2RY8 were set to unknown Review for gene: P2RY8 was set to GREEN