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Hearing loss

Gene: PTPRQ

Green List (high evidence)

PTPRQ (protein tyrosine phosphatase, receptor type Q)
EnsemblGeneIds (GRCh38): ENSG00000139304
EnsemblGeneIds (GRCh37): ENSG00000139304
OMIM: 603317, Gene2Phenotype
PTPRQ is in 3 panels

3 reviews

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613391:Deafness, autosomal recessive 84A[Hearing loss, bilateral sensorineural, progressiveVestibular dysfunction; Mildly delayed motor development due to vestibular dysfunction]

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Probable DD gene for deafness, autosomal recessive.
Created: 1 Mar 2016, 12:42 p.m.
Comment on list classification: Internal discussion decided that this gene should be promoted from amber to green - PMC4412678 compares reports of variants from 4 families from different ethnicities...Dutch, Moroccan, Palestinian and Chinese.
Created: 1 Mar 2016, 12:41 p.m.

Maria Bitner-Glindzicz (UCL)

I don't know

2 families with very similar phenotypes; little functional data
Created: 14 Oct 2015, 8:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Deafness, autosomal recessive 84A, 613391
  • Deafness,autosomalrecessive84A,613391
OMIM
603317
Clinvar variants
Variants in PTPRQ
Penetrance
Complete
Publications
  • PMID: 20346435 report a homozygous variant resulting in Tyr497Ter in 2 Dutch siblings with AR nonsyndromic hearing loss, and not found in matched controls. A homozygous variant resulting in Arg457Gly identified in 2 Moroccan siblings with AR nonsyndromic hearing loss, was also not found in matched controls.
Panels with this gene

History Filter Activity

7 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PTPRQ was changed to BIALLELIC, autosomal or pseudoautosomal

1 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Feb 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

23 Feb 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PTPRQ were set to PMID: 20346435 report a homozygous variant resulting in Tyr497Ter in 2 Dutch siblings with AR nonsyndromic hearing loss, and not found in matched controls. A homozygous variant resulting in Arg457Gly identified in 2 Moroccan siblings with AR nonsyndromic hearing loss, was also not found in matched controls.

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PTPRQ 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)

PTPRQ 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)

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