All individuals with variants in gene PEX6

171 entries on 2 pages. Showing entries 1 - 100.
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VIP     

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Variants     

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00050127 - article in revision at "Human Mutation" - - yes Egypt - - 0 - - PBD - 1 2 Hanno Bolz
00051496 - F131 - F yes Turkey - - 0 - - PBD-4B PBD-4B (Moderate) 1 1 Claire Guissart
00051497 - F131 - M yes Turkey - - 0 - - PBD-4B PBD-4B (moderate) 1 1 Claire Guissart
00065273 Fam5PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) 2 2 Jamie Zeegers
00065274 Fam5PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >16y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), severe sensorineural hearing impairment (HP:0008625), Beau’s lines (-HP:?), onychoschizia (HP:?), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) 2 1 Jamie Zeegers
00065275 Fam6PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, twin sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754) 2 2 Jamie Zeegers
00065276 Fam6PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >21y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754) 2 1 Jamie Zeegers
00080829 - Trujillano et al., submitted unaffected parents - - - - - 0 - - PBD4A Peroxisomebiogenesis disorder 4A (OMIM:614862) 1 1 Daniel Trujillano
00208599 Fam301 - - - - - - - 0 - - cancer, colon - 1 3 Xiang Jiao
00282363 - PubMed: Nobukuni 1996, PubMed: Lalwani 1998, PubMed: Xiong 2015 - - - - - - 0 - - WS - 1 1 Global Variome, with Curator vacancy
00283299 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283301 - PubMed: Xiong 2015 - - - Japan - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283302 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283305 Pat713 PubMed: Yik 2009 - - - United States - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283306 Pat720 PubMed: Yik 2009 - - - United States - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283307 Pat609 PubMed: Yik 2009 - - - United States - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283308 FamPatII1 PubMed: Raas-Rothschild 2002 2-generation family, 3 affected, parents and son; son M - Israel Algeria/Ashkenazi Jewish;Yemenite Jewish - 0 - - PBD see paper; ... 2 3 Nancy Braverman
00283309 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283310 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283311 C-05 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 2 1 Nancy Braverman
00283312 C-14 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283313 PBD106 PubMed: Yahraus 1996 - - - - - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283314 PBD6-01 PubMed: Matsumoto 2001 - - - Japan - - 0 - - PBD - 3 1 Nancy Braverman
00283317 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283321 - PubMed: Krause 2009 - - - - - - 0 - - PBD - 1 1 Johan den Dunnen
00283323 PatII1m PubMed: Raas-Rothschild 2002 mother F - Israel Algeria/Ashkenazi Jewish - 0 - - PBD see paper; ... 3 1 Nancy Braverman
00283324 - PubMed: Krause 2009 - - - - - - 0 - - PBD - 1 1 Johan den Dunnen
00283332 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283334 - PubMed: Grunert 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283335 PatII1f PubMed: Raas-Rothschild 2002 father M - Israel Yemenite Jewish - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00283338 C-03 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283339 - PubMed: Najmabadi 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283346 - PubMed: Bean 2013 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283348 C-10 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283351 Pat2 PubMed: Fukuda 1996 - F - Japan - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283352 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283353 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283354 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283355 Pat710 PubMed: Yik 2009 - - - United States - - 0 - - PBD - 3 1 Global Variome, with Curator vacancy
00283356 C-09 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283361 C-15 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283362 - PubMed: Matsumoto 2001, PubMed: Levesque 2012 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283363 C-07 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283364 - - - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283365 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283367 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283368 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283372 - PubMed: Al-Gazali 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283374 C-02 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283376 Pat1/GM04340 PubMed: Fukuda 1996 - - yes Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283377 - PubMed: Grunert 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283378 C-12 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283379 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283380 controls PubMed: Steinberg 2004 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00283381 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283382 C-13 PubMed: Zhang 1999 - - - Japan - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283384 C-11 PubMed: Imamura 2000 - - - Japan - - 0 - - PBD - 1 1 Nancy Braverman
00283385 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283386 controls PubMed: Steinberg 2004 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00289433 - - - F - - - - 0 - - ? Muscular hypotonia (HP:0001252); Multicystic kidney dysplasia (HP:0000003); Syndactyly (HP:0001159); Seizures (HP:0001250); Failure to thrive (HP:0001508); Retrognathia (HP:0000278); Low-set ears (HP:0000369); Hypertelorism (HP:0000316); Joint hypermobility (HP:0001382); Rocker bottom foot (HP:0001838) 1 1 IMGAG
00294108 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 138 Mohammed Faruq
00294109 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294110 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00305102 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00309298 - PubMed: Sharon 2019 3 IRD families - - Israel - - 0 - - retinal disease - 1 3 Global Variome, with Curator vacancy
00310099 patient PubMed: Konkolova 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Slovakia (Slovak Republic) white - 0 - - PBD see paper; ... 2 1 Johan den Dunnen
00310104 Pat1 PubMed: Falkenberg 2017 - - - - - - 0 - - PBD see paper; ... 2 1 Johan den Dunnen
00310105 Pat2 PubMed: Falkenberg 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother/half-brother - - - - - 0 - - PBD see paper; ... 2 2 Johan den Dunnen
00310106 Pat3 PubMed: Falkenberg 2017 - - - - - - 0 - - PBD see paper; ... 2 1 Johan den Dunnen
00310107 Pat4 PubMed: Falkenberg 2017 - - - - - - 0 - - PBD see paper; ... 2 1 Johan den Dunnen
00310108 Pat5 PubMed: Falkenberg 2017 - - - - - - 0 - - PBD see paper; ... 2 1 Johan den Dunnen
00310109 Pat6 PubMed: Falkenberg 2017 - - - - - - 0 - - PBD see paper; ... 2 1 Johan den Dunnen
00310110 Pat7 PubMed: Falkenberg 2017 - - - - - - 0 - - PBD see paper; ... 2 1 Johan den Dunnen
00310111 Pat2m PubMed: Falkenberg 2017 mother Pat2 F - - - - 0 - - Healthy/Control - 4 1 Johan den Dunnen
00310113 - PubMed: Krause 2009 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310114 - PubMed: Krause 2009 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310115 - PubMed: Krause 2009 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310116 - PubMed: Krause 2009 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310117 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310118 - - - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310120 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310121 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310122 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310123 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310124 - PubMed: Ebberink 2010 - - - - - - 0 - - Healthy/Control - 1 1 Nancy Braverman
00310127 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310129 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310130 - - - - - United States - - 0 - - PBD see paper; ... 2 1 Nancy Braverman
00310131 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310132 patient - - - - - - - 0 - - PBD see paper; ... 3 1 Nancy Braverman
00310133 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310134 - - - - - United States - - 0 - - PBD see paper; ... 2 1 Nancy Braverman
00310136 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310137 - - - - - United States - - 0 - - PBD see paper; ... 2 1 Nancy Braverman
00310138 - - - - - United States - - 0 - - PBD see paper; ... 2 1 Nancy Braverman
00310139 patient - - - - United States - - 0 - - PBD see paper; ... 3 1 Nancy Braverman
00310140 - - - - - United States - - 0 - - PBD see paper; ... 2 1 Nancy Braverman
00310141 - - - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00310142 - - - - - United States - - 0 - - Healthy/Control - 1 1 Nancy Braverman
00310143 - PubMed: Ebberink 2010 - - - - - - 0 - - Healthy/Control - 1 1 Nancy Braverman
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