Deafness_IsolatedAndComplex
Gene: P2RX2

P2RX2 (purinergic receptor P2X 2)
EnsemblGeneIds (GRCh38): ENSG00000187848
EnsemblGeneIds (GRCh37): ENSG00000187848
OMIM: 600844, Gene2Phenotype
P2RX2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional evidence supporting green rating: PMID: 33791800 - Chen et al 2021 - generated and a knock-in mouse model based on the human P2RX2 p.V60L mutation (previously reported in 2 unrelated Chinese families with hearing loss) . Knock-in mice showed early-onset of hearing loss at 21-day-old, with progressively hearing loss and deafness at around 6-month-old. This is consistent with the human clinical presentation.
Created: 7 Jul 2021, 4:55 a.m. | Last Modified: 7 Jul 2021, 4:55 a.m.

Panel Version: 1.79

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 41, MIM# 608224

Publications

33791800

Created: 7 Jul 2021, 4:55 a.m.
Last Modified: 7 Jul 2021, 4:55 a.m.
Panel version: 1.79

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Missense variants, dominant negative mechanism
ClinGen classified as moderate
Post lingual progressive, mechanism suggested is susceptibility to noise exposure but appears to be fully penetrant
Created: 28 Jan 2020, 10:32 p.m. | Last Modified: 28 Jan 2020, 10:32 p.m.

Panel Version: 0.239

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant deafness

Publications

Mode of pathogenicity
Other

Created: 28 Jan 2020, 10:32 p.m.
Last Modified: 28 Jan 2020, 10:32 p.m.
Panel version: 0.239

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal dominant 41, MIM# 608224

OMIM

600844

Clinvar variants

Variants in P2RX2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene