All individuals with variants in gene PEX6

104 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
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 26387595-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 - - HMLR-1 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 26387595-Fam5PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >16y 0 - - HMLR-1 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 26387595-Fam6PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, twin sisters, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >21y 0 - - HMLR-1 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 26387595-Fam6PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United Kingdom (Great Britain) - >21y 0 - - HMLR-1 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 - - PBD-4A 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 LOVD-team, but with Curator vacancy
00283298 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283299 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283300 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283301 - PubMed: Zhang 1999, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283302 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283303 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283304 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283305 - PubMed: Yik 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283306 - PubMed: Yik 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283307 - PubMed: Yik 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283308 - PubMed: Raas-Rothschild 2002 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283309 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283310 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283311 - PubMed: Zhang 1999, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283312 - PubMed: Zhang 1999 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283313 - PubMed: Yahraus 1996 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283314 - PubMed: Matsumoto 2001 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283315 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283316 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283317 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283318 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283319 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283320 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283321 - PubMed: Krause 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283322 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283323 - PubMed: Raas-Rothschild 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283324 - PubMed: Krause 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283325 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283326 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283327 - PubMed: Krause 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283328 - PubMed: Ratbi 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283329 - PubMed: Ratbi 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283330 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283331 - - - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283332 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283333 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283334 - PubMed: Grunert 2014 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283335 - PubMed: Raas-Rothschild 2002 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283336 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283337 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283338 - PubMed: Zhang 1999, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283339 - PubMed: Najmabadi 2011 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283340 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283341 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283342 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283343 - PubMed: Krause 2006 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283344 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283345 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283346 - PubMed: Bean 2013 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283347 - PubMed: Krause 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283348 - PubMed: Zhang 1999 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283349 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283350 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283351 - PubMed: Fukuda 1996, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283352 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283353 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283354 - PubMed: Ebberink 2010, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283355 - PubMed: Yik 2009 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283356 - PubMed: Zhang 1999, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283357 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283358 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283359 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283360 - PubMed: Ratbi 2015, PubMed: Steinberg 2004 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283361 - PubMed: Zhang 1999 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283362 - PubMed: Matsumoto 2001, PubMed: Levesque 2012 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283363 - PubMed: Zhang 1999 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283364 - - - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283365 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283366 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283367 - PubMed: Krause 2006, PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283368 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00283369 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283370 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283371 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283372 - PubMed: Al-Gazali 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283373 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283374 - PubMed: Zhang 1999 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283375 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283376 - PubMed: Fukuda 1996 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283377 - PubMed: Grunert 2014 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00283378 - PubMed: Zhang 1999 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283379 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283380 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283381 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283382 - PubMed: Zhang 1999 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283383 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283384 - PubMed: Imamura 2000 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283385 - PubMed: Ebberink 2010 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
00283386 - PubMed: Steinberg 2004 - - - - - - 0 - - PBD - 1 1 LOVD-team, but with Curator vacancy
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
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