All individuals with variants in gene PTPRQ

36 entries on 1 page. Showing entries 1 - 36.
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00132289 - PubMed: Schraders 2010 2-generation family, 2 affected sisters, both children exhibit moderate hearing loss M yes Morocco Moroccan - - - - DFNB;ARNSHL autosomal recessive bilateral nonsyndromic hearing loss with vestibular dysfunction (symmetric, sensorineural, progressive, likely congenital); electronystagmography in caloric and rotary testing shows impaired vestibular function 1 2 Johan den Dunnen
00132290 - PubMed: Schraders 2010 3-generation family, 2 affected brothers F no Netherlands Dutch - - - - DFNB;ARNSHL autosomal recessive bilateral nonsyndromic hearing loss with vestibular dysfunction (symmetric, sensorineural, likely congenital, progressing from severe to profound); patients did not develop normal speech, delayed motor development; electronystagmography in caloric and rotary testing shows impaired vestibular function 1 2 Johan den Dunnen
00132291 FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - DFNA see paper; ... 1 8 Hanno Bolz
00165030 - - - - - - - - - - - CRC - 2 1 Jessada Thutkawkorapin
00284942 Pat259 PubMed: Sloan-Heggen 2016 - - - United States - - - - - deafness severe-profound hearing loss, symmetric 2 1 Global Variome, with Curator vacancy
00284943 Pat257 PubMed: Sloan-Heggen 2016 - - - United States - - - - - deafness congenital, asymmetric 2 1 Global Variome, with Curator vacancy
00284944 Pat258 PubMed: Sloan-Heggen 2016 - - - United States - - - - - deafness childhood onset, mild-moderate hearing loss, symmetric 2 1 Global Variome, with Curator vacancy
00290802 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 50 Mohammed Faruq
00327134 - PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - DFNA1 - 1 1 So Young Kim
00441097 FamPat1/2 PubMed: Qin 2023 2-generation family, 2 affected sisters, unaffected heterozygous parents F - China - - - - - HL see paper; ..., 4y-postlingual‐delayed progressive sensorineural hearing loss 2 1 Johan den Dunnen
00441098 family PubMed: Shahin 2010 6-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives F;M yes Israel Palestine - - - - DFNB - 1 1 Johan den Dunnen
00441099 AG8960-Pat1 PubMed: Sakuma 2015 2-generation family, 1 affected, unaffected heterozygous parents M - Japan - - - - - HL - 1 1 Johan den Dunnen
00441100 SNS2193-Pat2 PubMed: Sakuma 2015 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - HL - 2 1 Johan den Dunnen
00441101 SNS2912-Pat3 PubMed: Sakuma 2015 2-generation family, 2 affected twin sisters, unaffected heterozygous parents F - Japan - - - - - HL - 2 2 Johan den Dunnen
00441102 Fam1572 PubMed: Gao 2015 2-generation family, 2 affected brothers, unaffected heterozygous parents M - China - - - - - HL - 2 2 Johan den Dunnen
00441103 family PubMed: Sang 2015 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents F;M - China Kazakh - - - - HL - 2 1 Johan den Dunnen
00441104 Fam8 PubMed: Ammar-Khodja 2015 4-generation family, 4 affected (F, 3M), unaffected heterozygous parents F;M yes Algeria - - - - - HL see paper; ..., profound deafness 1 4 Johan den Dunnen
00441113 family PubMed: Wu 2018 2-generation family, 1 affected, unaffected heterozygous parents/relatives F - China - - - - - HL - 2 1 Johan den Dunnen
00441114 patient PubMed: Talebi 2018 2-generation family, 1 affected, unaffected heterozygous parents (first cousin)/relatives M yes Iran - - - - - HL see paper; ..., 21m-poor response to sound 1 1 Johan den Dunnen
00441121 FamHL1222 PubMed: Sang 2019 - - - China - - - - - HL - 1 1 Johan den Dunnen
00441355 DEM4437 PubMed: Richard 2019 - - yes Pakistan - - - - - HL - 1 1 Johan den Dunnen
00441356 DEM4123 PubMed: Richard 2019 - - yes Pakistan - - - - - HL - 1 1 Johan den Dunnen
00441462 family PubMed: Ozieblo 2019 5-generation family, 13 affected (5F, 8M) F;M - Poland - - - - - DFNA see paper; ... 1 13 Johan den Dunnen
00441463 FamPatII2/II3 PubMed: Yang 2021 3-generation family, 4 affected (2F, 2M), segregating 2 different diseases; affected brother/sister F;M yes - China-S;Wuling Mountains - - - - HL - 1 4 Johan den Dunnen
00441466 GCFHL-01 PubMed: Mahmood 2021 5-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives F;M yes Pakistan Punjab - - - - HL 4y-5y progressive hearingloss 1 1 Johan den Dunnen
00441473 DXNCHE29 PubMed: Vanniya 2022 2-generation family, affected father/daughter/son, unaffected heterozygous carrier mother F;M yes India - - - - - HL prelingual bilateral profound sensorineural hearing loss, vestibular dysfunction 1 3 Johan den Dunnen
00441475 family PubMed: Jin 2022 2-generation family, affected sister/brother, unaffected heterozygous parents F;M - China - - - - - HL see paper; ... 2 1 Johan den Dunnen
00441476 FamE PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - HL see paper; ... 2 1 Johan den Dunnen
00441499 PAR031 PubMed: Boucher 2020 family, 2 affected - - France - - - - - HL - 1 2 Johan den Dunnen
00441500 PAR125 PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
00441529 3961 PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
00441530 4392 PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
00441531 B00APFU PubMed: Boucher 2020 - - - France - - - - - HL - 1 1 Johan den Dunnen
00441550 CIC4042 PubMed: Boucher 2020 control - - France - - - - - Healthy/Control - 1 1 Johan den Dunnen
00441651 HLRB4 PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - HL - 1 3 Johan den Dunnen
00441656 Pat260 PubMed: Sloan-Heggen 2016 - - - United States - - - - - HL autosomal recessive non-syndromic hearing loss, congenital 2 1 Johan den Dunnen
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