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Hearing loss

Gene: P2RX2

Green List (high evidence)

P2RX2 (purinergic receptor P2X 2)
EnsemblGeneIds (GRCh38): ENSG00000187848
EnsemblGeneIds (GRCh37): ENSG00000187848
OMIM: 600844, Gene2Phenotype
P2RX2 is in 1 panel

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:50 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Jun Shen (Harvard Medical School)

Green List (high evidence)

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]

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:53 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

2 families and some functional evidence
Created: 14 Oct 2015, 8:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Deafness, autosomal dominant 41, 608224
OMIM
600844
Clinvar variants
Variants in P2RX2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for P2RX2 were set to PMID:10493739; 10570044; 10935636; 12161595; 16322458; 18491132; 23345450; 23592720; 24211385; 7523952; 7566120

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for P2RX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

P2RX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert