Deafness_Isolated
Gene: P2RX2EnsemblGeneIds (GRCh38): ENSG00000187848
EnsemblGeneIds (GRCh37): ENSG00000187848
OMIM: 600844, Gene2Phenotype
P2RX2 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 4:56 a.m. | Last Modified: 7 Jul 2021, 4:56 a.m.
Panel Version: 1.10
Progressive sensorineural hearing loss usually in the second decade. Three families and a mouse model. Note the variant reported in one of the families, p.Gly353Arg is present in 4 heterozygotes in gnomad.Created: 28 Jul 2020, 10:04 p.m. | Last Modified: 28 Jul 2020, 10:04 p.m.
Panel Version: 0.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 41, MIM# 608224
Publications
Lilian Downie (Victorian Clinical Genetics Services)
Sources: Expert listCreated: 28 Jul 2020, 11:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 41, MIM#608224
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Deafness, autosomal dominant 41, MIM#608224
- OMIM
- 600844
- Clinvar variants
- Variants in P2RX2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: P2RX2 were set to 23345450; 24211385
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: p2rx2 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: P2RX2 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: p2rx2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Lilian Downie (Victorian Clinical Genetics Services)gene: P2RX2 was added gene: P2RX2 was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: P2RX2 were set to Deafness, autosomal dominant 41, MIM#608224 Review for gene: P2RX2 was set to GREEN