All individuals with variants in gene POC1B

33 entries on 1 page. Showing entries 1 - 33.
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00016591 - - - M yes Iraq - - 0 - - JBTS1 - 1 1 Hanno Bolz
00227947 - - - F - - - - 0 - - ? HP:0000548 (Cone/cone-rod dystrophy) 1 1 IMGAG
00324517 FamBPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 1 affected child (M), unaffected heterozygous carrier parents M ? Netherlands - >60y 0 - treated for hypertension CORD 14y-reduced visual acuity (HP:0007663), photophobia (HP:0000613), nystagmus HP:0000639), abnormality of colour vision (HP:0000551), 50-59y-reduced visual acuity (HP:0007663), >60y-degenerative changes consisting of RPE atrophy and bone-spicule pigmentations in the periphery of the inferior quadrant, abnormality at the inner-segment ellipsoid zone; 55y-absent rod- and cone-mediated responses on ERG 2 1 Jens Doets
00324522 Fam1PatII1 PubMed: Jin 2018, PubMed: Jin 2018 3 generation family, 1 affected (F), unaffected heterozygous carrier parents F ? China - >26y 0 - - COD photophobia (HP:0000613), reduced visual acuity (HP:0007663), paracentral scotoma (HP:0030528) 2 1 Jens Doets
00324526 patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y 0 - - COD see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688) 2 1 Najlae Akhiyate
00324548 FamPat305 PubMed: Durlu 2014 4-generation family, 4 affected (3F, M) F yes Turkey - >61y 0 - - CORD20 decreased central vision (HP:0007663), dyschromatopsia (HP:0000551) and extreme photophobia (HP:0000613) 1 4 Najlae Akhiyate
00326002 FamAPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F no Turkey - >16y 0 - - CORD reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function 1 3 Jens Doets
00326004 FamAPatII3 PubMed: Roosing 2014, Journal: Roosing 2014 sister F no Turkey - - 0 - - CORD 11y-reduced visual acuity (HP:0007663) 1 1 Jens Doets
00326005 FamAPatII4 PubMed: Roosing 2014, Journal: Roosing 2014 brother M no Turkey - >09y 0 - - CORD reduced visual acuity (HP:0007663), 6y-absent cone function 1 1 Jens Doets
00326802 patient PubMed: Kominami 2017, PubMed: Kominami 2017 - M no Japan Japan >20y 0 - - COD photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), reduced visual acuity (HP:0007663), Dyschromatopsia (HP:0007641), Absent rod-and cone-mediated responses on ERG (HP:0007688) 2 1 Jens Doets
00327547 family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - retinal disease see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease 2 5 Johan den Dunnen
00327548 family PubMed: Gu 2016 2-generation family - - China - - 0 - - PKD - 1 1 Johan den Dunnen
00327549 Fam1 PubMed: Kameya 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Japan - - 0 - - retinal disease see paper; ... 2 2 LOVD
00327550 Fam2 PubMed: Kameya 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Japan - - 0 - - retinal disease see paper; ... 2 2 LOVD
00327551 Fam3 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - retinal disease see paper; ... 2 1 LOVD
00327552 Fam4 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - retinal disease see paper; ... 1 1 LOVD
00327553 Fam5 PubMed: Kameya 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents F - Japan - - 0 - - retinal disease see paper; ... 1 2 LOVD
00327554 Fam6 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - retinal disease see paper; ... 2 1 LOVD
00327555 Fam7 PubMed: Kameya 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - retinal disease see paper; ... 1 1 LOVD
00331982 Pat120 PubMed: Birtel 2018 family F - Germany - - 0 - - retinal disease reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished 1 1 LOVD
00334507 - - - F - - - - 0 - - ? Vitelliform-like macular lesions (HP:0007677); Macular dystrophy (HP:0007754); Occult macular dystrophy (HP:0030636) 1 1 IMGAG
00335195 4252 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - 0 - - ? 48y-diagnosis visual impairment 1 1 LOVD
00335196 1061 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - ? 14y-diagnosis visual impairment 1 1 LOVD
00335197 3806 PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - ? 18y-diagnosis visual impairment 2 1 LOVD
00371675 178457 - - M yes ? (unknown) - - 0 - - CORD20 (+) Visual impairment,(+) Cone/cone-rod dystrophy/ Cone-rod dystrophy, onset at about 12 years, now visual acuity at 10%, parents consanguine (cosuins 1°) 1 1 Andreas Laner
00380090 IR_GH_0181 - - M - Korea, South (Republic) - - - - - CORD HP:0030515, HP:0000662, HP:0000613, HP:0001123, HP:0000551, HP:0000548 2 1 Jinu Han
00388264 4.1 PubMed: Toulis 2020 proband M - Spain - - 0 - - retinal disease Reduced photopic and flicker amplitude, best corrected visual acuity right eye/left eye: 20�40/20�50 2 1 LOVD
00388266 4.2 PubMed: Toulis 2020 Affected brother of 4.1 M - Spain - - 0 - - retinal disease - 2 1 LOVD
00389836 1120 PubMed: Weisschuh 2020 Filing key number: 764, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - 0 - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00391179 141 PubMed: Gliem 2020 - F - (Germany) - - 0 - - retinal disease - 1 1 LOVD
00392649 132 PubMed: Ma 2021 - ? - Korea - - 0 - - retinal disease initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to cone-rod dystrophy 1 1 LOVD
00392656 145 PubMed: Ma 2021 - ? - Korea - - 0 - - retinal disease initial diagnosis of isolated (sporadic) cone-rod dystrophy redifined to cone-rod dystrophyD 2 1 LOVD
00395890 F150 PubMed: Chen 2021 - ? - Taiwan - - 0 - - retinal disease - 1 1 LOVD
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