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Deafness_IsolatedAndComplex

Gene: P2RX2

Green List (high evidence)

P2RX2 (purinergic receptor P2X 2)
EnsemblGeneIds (GRCh38): ENSG00000187848
EnsemblGeneIds (GRCh37): ENSG00000187848
OMIM: 600844, Gene2Phenotype
P2RX2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Missense variants, dominant negative mechanism
ClinGen classified as moderate
Post lingual progressive, mechanism suggested is susceptibility to noise exposure but appears to be fully penetrant
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 41, MIM# 608224
OMIM
600844
Clinvar variants
Variants in P2RX2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: P2RX2 were set to 23345450; 24211385

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: p2rx2 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: P2RX2 were set to

29 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224

29 Jan 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: P2RX2 was changed from to Other

29 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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