Deafness_IsolatedAndComplex
Gene: P2RX2
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
Missense variants, dominant negative mechanism
ClinGen classified as moderate
Post lingual progressive, mechanism suggested is susceptibility to noise exposure but appears to be fully penetrantCreated: 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
Publications for gene: P2RX2 were set to 23345450; 24211385
Gene: p2rx2 has been classified as Green List (High Evidence).
Publications for gene: P2RX2 were set to
Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224
Mode of pathogenicity for gene: P2RX2 was changed from to Other
Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: P2RX2 was added gene: P2RX2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: P2RX2 was set to Unknown