Hearing loss
Gene: PTPRQ
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
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.
2 families with very similar phenotypes; little functional dataCreated: 14 Oct 2015, 8:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for PTPRQ was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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.
PTPRQ was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
PTPRQ was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
PTPRQ was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert