All individuals with variants in gene RCBTB1

52 entries on 1 page. Showing entries 1 - 52.
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00183355 27486781-FamF2 PubMed: Coppieters 2016 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Italy - - - - - retinal disease see paper; ..., progressive pattern-like reticular dystrophy 1 3 Johan den Dunnen
00183356 27486781-FamF3 PubMed: Coppieters 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Greece - - - - - retinal disease central chorioretinal atrophy, peripheral reticular dystrophy, thyroid nodules, cold intolerance, dyslipidemia (son with autism and ID) 1 1 Johan den Dunnen
00183357 27486781-FamF4 PubMed: Coppieters 2016 3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M - Greece - - - - - retinal disease central chorioretinal atrophy, peripheral reticular dystrophy, sensorineural hearing loss (adult onset), ... 1 4 Johan den Dunnen
00183358 27486781-FamF5 PubMed: Coppieters 2016 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - retinal disease progressive pattern-like reticular dystrophy, lung fibrosis 2 1 Johan den Dunnen
00183359 27486781-FamF6 PubMed: Coppieters 2016 3-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - retinal disease retinal dystrophy starting with bilateral vision loss, fundus with bilateral irregular pigmentations mainly in the mid-periphery 1 1 Johan den Dunnen
00263089 E9 III-2 PubMed: Wu 2016 family of 3-generations, 2 affected M no Taiwan - - - - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490); no sign of retinitis pigmentosa (HP:0000510); left eye: total traction retinal detachment (HP:0007917), corneal opacity (HP:0007957), retinal hole (HP:0011530) 1 2 Jasmine Chen
00263295 E9 III-4 PubMed: Wu 2016 3 generation family, 2 affected M no Taiwan - - - - right eye intraocular lens implantation EVR;FEVR familial exudative retinopathy (HP:0030490), right eye fibrovascular stalk (HP:0007968), left eye (HP:0001103) 1 1 Jasmine Chen
00263296 E5 II-1 PubMed: Wu 2016 2 generation family, 1 affected M no Taiwan - - - - cryopexy, pars plana vitrectomy, removal of subretinal fibrous cord EVR;FEVR subretinal lipid exudate (HP:0011532), right eye exudative retinal detachment (HP:0012231), right eye Coats disease (HP:0030490), left eye aphakia (HP:0007707) 1 1 Jasmine Chen
00263300 F1 V:1 PubMed: Coppieters 2016 5 generation consanguineous family, 3 affected F yes Belgium Turkish - - - - EVR;FEVR, retinal disease severe retinitis pigmentosa (HP:0000510), goiter (HP:0000853), primary ovarian insufficiency (HP:0008209), mild intellectual disability (HP:0001256) 1 3 Jasmine Chen
00263407 III:2:P4 PubMed: Van Cauwenbergh 2016 4 generation family, 2 affected M no Belgium - - - - - retinal disease retinitis pigmentosa (HP:0000510), night blindness (HP:0000662), chorioretinal atrophy (HP:0000533) 2 2 Jasmine Chen
00358947 Case71472 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00389837 1121 PubMed: Weisschuh 2020 Filing key number: 765, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00395863 F171 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00395917 F238 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00395933 F282 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00413762 - PubMed: Huang-2019 - F - - Singaporean-Chinese - - - - retinal disease - 2 1 LOVD
00413763 16755 PubMed: Yang 2020 - - - - - - - - - retinal disease attenuated retinal arterioles and tapetoretinal degeneration with intraretinal pigment, severe visual field loss, and significantly reduced rod and cone responses with full field ERG 2 1 LOVD
00413764 11465 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413765 9948 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413766 6237 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413767 16538 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413768 12790 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413769 17842 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413770 6540 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413771 8126 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413772 7973 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413773 6391 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413774 10442 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413775 794 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413776 1228 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413777 8739 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413778 9192 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413779 18927 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413780 9923 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413781 7317 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413782 6163 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413783 5284 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413784 6874 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413785 5208 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413786 NC1 PubMed: Yang 2020 - - - - - - - - - Healthy/Control - 1 1 LOVD
00413787 12782 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413788 4673 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413789 19024 PubMed: Yang 2020 - - - - - - - - - retinal disease - 1 1 LOVD
00413790 NC2, NC3 PubMed: Yang 2020 - - - - - - - - - Healthy/Control - 1 2 LOVD
00420492 F171 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00420540 F238 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00420571 F282 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00429604 - PubMed: Panneman 2023 - F - - - - - - - RP - 2 1 Daan Panneman
00429710 - PubMed: Panneman 2023 - M - - - - - - - RP - 1 1 Daan Panneman
00430075 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00447544 CRD-843 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00447685 MISC-301 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 1 2 Johan den Dunnen
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