Monogenic hearing loss
Gene: P2RX2Additional 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
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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]
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:53 p.m.
2 families and some functional evidenceCreated: 14 Oct 2015, 8:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for P2RX2 were set to PMID:10493739; 10570044; 10935636; 12161595; 16322458; 18491132; 23345450; 23592720; 24211385; 7523952; 7566120
Mode of inheritance for P2RX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert