All individuals with variants in gene PEX1

357 entries on 4 pages. Showing entries 1 - 100.
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00065231 26387595-Fam1PatII3 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F - Morocco - >16y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754) 1 2 Jamie Zeegers
00065261 26387595-Fam1PatII4 PubMed: Ratbi 2015, Journal: Ratbi 2015 - M - Morocco - >12y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754) 1 1 Jamie Zeegers
00065263 26387595-Fam2Pat1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no United States - >31y 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), macular dystrophy (HP:0007754) 2 2 Jamie Zeegers
00065265 26387595-Fam2PatII2 PubMed: Ratbi 2015, Journal: Ratbi 2015 - F no United States - >29y 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), macular dystrophy (HP:0007754) 2 1 Jamie Zeegers
00065270 26387595-Fam3PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Ireland - >19y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597) 2 1 Jamie Zeegers
00065272 26387595-Fam4PatII1 PubMed: Ratbi 2015, Journal: Ratbi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - >24y 0 - - HMLR1 Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) 2 1 Jamie Zeegers
00072281 - - Parent of Heimler Syndrome patient F ? Morocco - - 0 - - Healthy/Control Unaffected 1 5 Glenda Beaman
00072283 - - Parent of Heimler Syndrome patient M ? Morocco - - 0 - - Healthy/Control Unaffected parent of Heimler Syndrome patient 1 1 Glenda Beaman
00072284 - - - F yes Morocco - - 0 - - Healthy/Control Unaffected sibling of Heimler Syndrome patient 1 1 Glenda Beaman
00072285 - - - M yes Morocco - - 0 - - Healthy/Control Unaffected sibling of Heimler Syndrome patient 1 1 Glenda Beaman
00072286 - - - F yes Morocco - - 0 - - HMLR1 Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597) 1 1 Glenda Beaman
00081019 - Trujillano et al., submitted unaffected parents - - - - - 0 - - PBD1A Peroxisome biogenesis disorder 1A (Zellweger) (OMIM:214100) 1 1 Daniel Trujillano
00269115 - - - F - - - - 0 - - ? Large fontanelles (HP:0000239); Low-set ears (HP:0000369); Deviation of finger (HP:0004097); Depressed nasal bridge (HP:0005280); Abnormality of the face (HP:0000271); Hypertelorism (HP:0000316); Abnormality of the hand (HP:0001155); Talipes equinovarus (HP:0001762); Wide cranial sutures (HP:0010537); Muscular hypotonia (HP:0001252) 1 1 Andreas Laner
00269902 - - - ? - - - - 0 - - ? Neonatal death (HP:0003811) 1 1 IMGAG
00283619 Pat719 PubMed: Yik 2009 - - - - - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283620 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283621 Pat627 PubMed: Yik 2009 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283622 - PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011, - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283623 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283624 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283625 - PubMed: Rosewich 2005, PubMed: Steinberg 1993 - - - - - - 0 - - PBD zellweger syndrome 1 1 Global Variome, with Curator vacancy
00283626 - PubMed: Rosewich 2005, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283627 - PubMed: Rosewich 2005, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283628 - PubMed: Reuber 1997, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283630 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283631 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283632 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283633 - PubMed: Mohebbi 2012 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283634 Pat616 PubMed: Yik 2009 - - - United States - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283636 - PubMed: Maxwell 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283637 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283639 - PubMed: Steinberg 1993, PubMed: Walter 2001, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283640 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283641 - PubMed: Steinberg 1993, PubMed: Portsteffen 1997, PubMed: Ebberink 2011, PubMed: Steinberg 2004, PubMed: Reuber 1997, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283642 - PubMed: Rosewich 2005, , PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Steinberg 2004, PubMed: Maxwell 2002, PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283643 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283646 Pat604 PubMed: Yik 2009 - - - United States - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283648 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283649 - PubMed: Steinberg 1993, PubMed: Walter 2001 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283653 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283654 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283656 - PubMed: Rosewich 2005, PubMed: Gärtner 1999, PubMed: Waterham 2012, PubMed: Weleber 1993, PubMed: Walter 2001 1997, PubMed: Bean 2013 1998, PubMed: Portsteffen 1997, PubMed: Reuber 1997, PubMed: Steinberg 1993, PubMed: Steinberg 2006 2001, 2005, - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283657 - PubMed: Reuber 1997 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283659 - PubMed: Maxwell 2005, PubMed: Steinberg 1993 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283660 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283661 - PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Thoms 2011, PubMed: Collins 1999, PubMed: Ebberink 2011, PubMed: Crane 2005, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283662 - PubMed: Maxwell 2002, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283664 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283665 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283666 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283667 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283669 - PubMed: Steinberg 1993, PubMed: Bean 2013, PubMed: Reuber 1997, PubMed: Heimler 1991, PubMed: Gärtner 1992, PubMed: Steinberg 2006, PubMed: Collins 1999, PubMed: Ratbi 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283671 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283672 - PubMed: Walter 2001, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283673 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283675 - PubMed: Steinberg 1993, PubMed: Tamura 1998, PubMed: Tamura 2001 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283676 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283677 - PubMed: Reuber 1997 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283678 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283679 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283680 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283681 - PubMed: Tamura 2001, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283682 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283683 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283684 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283685 Pat716 PubMed: Yik 2009 - - - - - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283686 - PubMed: Walter 2001, PubMed: Xiong 2015 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283687 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283689 - PubMed: Steinberg 1993, PubMed: Ebberink 2011, - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283694 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283696 - PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283697 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283698 - PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283699 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283700 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283702 - , PubMed: Ratbi 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283704 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283706 - PubMed: Rosewich 2005, PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283709 - PubMed: Sun 2013, PubMed: Steinberg 1993, - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283710 - PubMed: Tamura 2001, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283711 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283712 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283713 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283714 - PubMed: Rosewich 2005, PubMed: Steinberg 1993, - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283715 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283716 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283717 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283718 - PubMed: Sun 2013 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283719 - , PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283721 - PubMed: Fromer 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00283723 - PubMed: Bean 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00283724 - PubMed: Rosewich 2005 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283725 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283726 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283727 Pat707 PubMed: Yik 2009 - - - United States - - 0 - - PBD - 2 1 Global Variome, with Curator vacancy
00283728 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283729 - PubMed: Ebberink 2011, PubMed: Xiong 2015 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283730 - PubMed: Thoms 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00283733 - PubMed: Steinberg 1993, PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Global Variome, with Curator vacancy
00289016 Fam23P27 PubMed: Karali 2019, Journal: Karali 2019 - F no Italy - - 0 - - retinal disease RP, night blindness, pericentral field loss 2 1 Sandro Banfi
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