Monogenic hearing loss
Gene: P2RX2EnsemblGeneIds (GRCh38): ENSG00000187848
EnsemblGeneIds (GRCh37): ENSG00000187848
OMIM: 600844, Gene2Phenotype
P2RX2 is in 1 panel
6 reviews
Eleanor Williams (Genomics England Curator)
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: 6 Jul 2021, 11:32 a.m. | Last Modified: 6 Jul 2021, 11:32 a.m.
Panel Version: 2.177
Publications
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:50 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#608224:Deafness, autosomal dominant 41[Hearing loss, progressive sensorineural (most severe at high frequencies, but ultimately affecting all frequencies)Tinnitus]
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:53 p.m.
Maria Bitner-Glindzicz (UCL)
2 families and some functional evidenceCreated: 14 Oct 2015, 8:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Deafness, autosomal dominant 41, 608224
- OMIM
- 600844
- Clinvar variants
- Variants in P2RX2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for P2RX2 were set to PMID:10493739; 10570044; 10935636; 12161595; 16322458; 18491132; 23345450; 23592720; 24211385; 7523952; 7566120
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for P2RX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert