Hearing loss
Gene: P2RX2New 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