All individuals with variants in gene IMPG2

151 entries on 2 pages. Showing entries 1 - 100.
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Population     

Age at death     

VIP     

Data_av     

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Phenotype details     

Variants     

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Owner     
00033089 FamG PubMed: Van Huet 2014, PubMed: Neveling 2012 2-generation family, 2 affected (F, M) F;M yes - - - 0 - - retinal disease - 2 2 Kornelia Neveling
00033358 - PubMed: Abu-Safieh-2013 - - - - - - 0 - - retinal disease - 2 1 Leen Abu Safieh
00033601 FamJ PubMed: Van Huet 2014 2-generation family, 1 affected F yes - - - 0 - - retinal disease - 1 1 Marcel Nelen
00155480 MOL0764 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014, PubMed: Sharon 2019 4-generation family, 3 affected sisters F yes Israel Iraq;Jewish - 0 - - retinal disease - 1 3 Dror Sharon
00155481 MOL0732 PubMed: Bandah-Rozenfeld 2010, PubMed: Sharon 2019 - F yes Israel Arab Christian - 0 - - retinal disease - 1 1 Dror Sharon
00209031 28771251-Pat51 PubMed: Lionel 2018 - M - Canada - - 0 - - RD Retinal dystrophy 2 1 Johan den Dunnen
00232399 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232400 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232401 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232402 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232403 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232404 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 17 Yoshito Koyanagi
00232405 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 2 Yoshito Koyanagi
00232406 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 577 Yoshito Koyanagi
00232407 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 7 Yoshito Koyanagi
00232408 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 8 Yoshito Koyanagi
00232409 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232410 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 25 Yoshito Koyanagi
00232411 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 3 Yoshito Koyanagi
00232412 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 16 Yoshito Koyanagi
00232413 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232414 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232415 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232416 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232417 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232418 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232419 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00232420 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 22 Yoshito Koyanagi
00233654 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00233655 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 471 Yoshito Koyanagi
00233656 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - retinal disease - 1 1 Yoshito Koyanagi
00240445 - - - F - Mexico - - 0 - - RD - 1 1 Juan Carlos Zenteno
00240446 - - - F - Mexico - - 0 - - RD - 1 1 Juan Carlos Zenteno
00240447 - - - F - Mexico - - 0 - - RD - 1 1 Juan Carlos Zenteno
00275579 - - - F - - - - 0 - - ? Vitelliform-like macular lesions (HP:0007677); Exostoses (HP:0100777) 1 1 Andreas Laner
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - 0 - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 1 1 Johan den Dunnen
00308419 CIC00680 PubMed: Boulanger-Scemama 2015 - - - France - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308611 - PubMed: Holtan 2020 1 homozygous patient - - Norway - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308656 - PubMed: Kim 2019 - - - Korea - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309196 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309197 - PubMed: Sharon 2019 2 IRD families - - Israel - - 0 - - retinal disease - 1 2 Global Variome, with Curator vacancy
00309199 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309805 W01-299 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 2-generation family, 3 affected sibs (F, 2M) F;M - Netherlands - - 0 - - retinal disease - 1 1 Johan den Dunnen
00309806 W08-1378 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 family, 2 affected 2nd cousins - - Netherlands - - 0 - - retinal disease - 1 1 Johan den Dunnen
00309807 NAP1 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 2-generation family, 2 affected sisters F yes Italy - - 0 - - retinal disease - 1 2 Johan den Dunnen
00309808 NAP75 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 2-generation family, 1 affected F yes Italy - - 0 - - retinal disease - 1 1 Johan den Dunnen
00309809 RP49 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 2-generation family, 3 affected (2F, M) F;M yes Pakistan - - 0 - - retinal disease - 1 3 Johan den Dunnen
00309815 Fam4 PubMed: Meunier 2014 3-generation family, 2 affected (2M) M - France - - 0 - - retinal disease see paper; ... 1 2 Johan den Dunnen
00309816 PB15 PubMed: Bocquet 2013 2-generation family, 3 affected (F, 2M) F;M yes France - - 0 - - retinal disease see paper; ... 1 3 Johan den Dunnen
00309824 FamH PubMed: Van Huet 2014, 2-generation family, 2 affected sisters F - - - - 0 - - retinal disease - 2 1 Johan den Dunnen
00309825 FamK PubMed: Van Huet 2014 2-generation family, 1 affected F - - - - 0 - - retinal disease - 1 1 Johan den Dunnen
00309828 Fam8–572 PubMed: Brandl 2017 2-generation family, 2 affected (2F) F - Germany - - 0 - - retinal disease see paper; ... 1 2 Johan den Dunnen
00309829 Fam9–399 PubMed: Brandl 2017 2-generation family, 2 affected (F, M) M - Germany - - 0 - - retinal disease see paper; ... 1 2 Johan den Dunnen
00309830 Fam8–206 PubMed: Brandl 2017 - M - Germany - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309831 Fam8–453 PubMed: Brandl 2017 - M - Germany - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309832 Fam6–225 PubMed: Brandl 2017 - F - Germany - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309833 Fam6–75 PubMed: Brandl 2017 - M - Germany - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309834 Fam9–274 PubMed: Brandl 2017 3-generation family, 1 affected M - Germany - - 0 - - MPOD see paper; ... 1 1 Johan den Dunnen
00309835 Fam8–553 PubMed: Brandl 2017 2-generation family, 2 affected (F, M) F - Germany - - 0 - - MPOD see paper; ... 1 2 Johan den Dunnen
00309836 - PubMed: Shah 2018 - F - United States white - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00325426 1602 PubMed: Zenteno 2020 - - - Mexico - - 0 - - retinal disease macular dystrophy 1 1 Johan den Dunnen
00325459 3332 PubMed: Zenteno 2020 family - - Mexico - - 0 - - retinal disease retinitis pigmentosa 2 1 Johan den Dunnen
00327926 B240040 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - 0 - - retinal disease - 2 1 LOVD
00327974 G000986 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - 0 - - retinal disease - 2 1 LOVD
00328006 G001043 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - 0 - - retinal disease - 1 1 LOVD
00328118 G005240 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - 0 - - retinal disease - 1 1 LOVD
00333700 861 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IIB 1 1 LOVD
00333701 862 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IIB 1 1 LOVD
00333805 1 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - retinal disease clinical category IA1 1 1 LOVD
00333838 34 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IA1a 2 1 LOVD
00333839 35 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IA1a 2 1 LOVD
00333840 36 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - retinal disease clinical category IA1a 1 1 LOVD
00333906 273 PubMed: Stone 2017 family, 2 affected F - (United States) - - 0 - - retinal disease clinical category IA1aiii 1 2 LOVD
00334575 216 PubMed: Vincent 2017 family, 2 affected, patient and mother? F - Samoa - - 0 - - retinal disease see paper; ... 1 2 LOVD
00335124 458 PubMed: Haer-Wigman 2017 family - no Netherlands - - 0 - - ? 32y-diagnosis visual impairment 1 1 LOVD
00358960 Case28865 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358963 Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358967 Case71315 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358972 Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358978 Case71868 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00359114 12014873 PubMed: Ellingford 2016 patient - - - - - 0 - - retinal disease - 2 1 LOVD
00359200 12002961 PubMed: Ellingford 2016 patient - - - - - 0 - - retinal disease - 1 1 LOVD
00359215 13004890 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - 0 - - retinal disease - 1 1 LOVD
00359331 32408 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - 0 - - retinal disease see paper; ... 2 1 LOVD
00359332 29709 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - 0 - - retinal disease see paper; ... 2 1 LOVD
00363459 3XN+K.89 PubMed: Ge 2015 simplex case - - United States - - 0 - - retinal disease see paper; ... 2 1 LOVD
00363605 09DG01587 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00363666 11DG2068 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00363689 12DG0554 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00363702 12DG1252 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00363718 12DG2330 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00363741 13DG1769 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00371667 178411 - - F ? Germany - - 0 - - VMD-5 (+) Rod-cone dystrophy,(+) Uveitis,(+) Nyctalopia,(+) Vasculitis 1 1 Andreas Laner
00372654 RP337 PubMed: Xu 2014 - M - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372667 RP022 PubMed: Xu 2014 family M - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372669 RP281 PubMed: Xu 2014 patient F - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372675 RP298 PubMed: Xu 2014 patient M - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372681 RP292 PubMed: Xu 2014 family M - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372692 RP266 PubMed: Xu 2014 - - - China - - 0 - - retinal disease see paper; ... 2 1 LOVD
00372703 RP031 PubMed: Xu 2014 - - - China - - 0 - - retinal disease see paper; ... 1 1 LOVD
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