All individuals with variants in gene CEP78

49 entries on 1 page. Showing entries 1 - 49.
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00074439 PatN10 PubMed: Nikopoulos 2016 2-generation family, 1 affected, unaffected parents M no Greece Greek - - - - CORD - 1 1 Konstantinos Nikopoulos
00074440 FamPat2716s15/2702r34 PubMed: Nikopoulos 2016 2-generation family, 2 affected (f, M), unaffected parents F;M no Sweden Swedish - - - - CORD - 2 2 Konstantinos Nikopoulos
00074469 MOL0679PatIII2/1 PubMed: Namburi 2016 3-generation family, 2 affected brothers, unaffected parents M yes Afghanistan Jewish-Oriental - - - - ? individual diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407) 1 2 Prasanthi Namburi
00074470 Mol1310PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents M no Iran;Iraq Jewish-Oriental - - - - ? individuals diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407) 1 1 Prasanthi Namburi
00074490 MOL0773PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents F yes Israel Jewish-Oriental - - - - CORD see paper; ..., diagnoised with CORD+SNHL (cone-rod degeneration with sensorineural hearing loss) 1 1 Prasanthi Namburi
00105024 56ORG1 PubMed: de Castro-Miró 2016 - F ? Spain - - - - - retinal disease - 1 1 Marta de Castro-Miró
00155411 - Sharon, submitted - M no Israel Iraq;Jewish - - - - CRDHL - 1 1 Dror Sharon
00155412 - Sharon, submitted - M no Israel Jewish-Oriental - - - - CRDHL - 2 1 Dror Sharon
00155413 - Sharon, submitted - M yes Israel Jewish-Oriental - - - - CRDHL - 1 2 Dror Sharon
00269283 Fam2PaII2 PubMed: Ascari 2020 2-generation family, 1 affected, unaffected parents M - Belgium - - - - - CRDHL best‐corrected visual acuity hand movements at 1m/hand movements at 1m; Goldmann visual fields oculus dexter et sinister moderately constricted peripheral limits, extensive central, absolute scotoma; fundus imaging oculus dexter et sinister limited outer retinal atrophy in macula up to area nasal to optic disc, severely reduced vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse hypo‐ and hyperautofluorescence; hyperautofluorescent ring around central macula, mottled hypoautofluorescence of retina nasal to optic disc; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐tenth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia 1 1 Elfride De Baere
00269284 Fam3PatII1 PubMed: Ascari 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Germany - - - - - CRDHL best‐corrected visual acuity 0.2/0.2; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister: mildly reduced rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; acquired, severe color vision deficiency; asthenoteratozoospermia 2 2 Elfride De Baere
00269285 Fam1PatIII2 PubMed: Ascari 2020 4-generation family, affected brother/sister, unaffected heterozygous carrier parents; relatives M - Belgium - - - - - INFM 53y-best‐corrected visual acuity counting fingers at 50cm/hand movements at 1m; Goldmann visual fields oculus dexter et sinister only preserved inferior caecocentral island with object V4 of Goldmann with severely reduced sensitivity;fundus imaging oculus dexter et sinister severe reduction in vascular caliber, small white dots from the macula up to the midperiphery, relatively better preservation of fovea as well as peripheral retina, and spicular intraretinal pigmentation in nasal midperiphery; blue light autofluorescence imaging oculus dexter et sinister diffuse, mottled mixed hypo‐ and limited hyperautofluorescence more pronounced in macular area, better preserved autofluorescence in foveal area immediately surrounded by hypoautofluorescent ring; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐fourth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia; diabetes mellitus type 2; morbid obesity; oligoasthenoteratospermia 1 2 Elfride De Baere
00309032 - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - retinal disease - 1 3 Global Variome, with Curator vacancy
00309033 - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - retinal disease - 1 3 Global Variome, with Curator vacancy
00309538 TB279PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents M no Iran;Iraq Jewish-Oriental - - - - ? individuals diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407) 1 1 Prasanthi Namburi
00309539 TB365PatII1 PubMed: Namburi 2016 2-generation family, 1 affected, unaffected parents M no Iraq - - - - - ? individuals diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407) 2 1 Prasanthi Namburi
00309540 Fam1 PubMed: Fu 2017 2-generation family, 2 affected sisters, unaffected parents F yes China - - - - - USH see paper; ... 1 2 Johan den Dunnen
00309541 Fam2 PubMed: Fu 2017 5-generation family, 2 affected (F, M), unaffected parents F;M yes China - - - - - USH see paper; ... 1 2 Johan den Dunnen
00309545 Pat3 PubMed: Sanchis-Juan 2018 - M - United Kingdom (Great Britain) - - - - - ? see paper; ..., cone-rod dystrophy; sensorineural hearing loss 1 1 Johan den Dunnen
00332412 - - - F - Belgium - - - - - CRDHL - 2 1 Elfride De Baere
00332413 - - - F - Denmark - - - - - CRDHL - 2 1 Elfride De Baere
00332414 - - - M yes Turkey - - - - - CRDHL - 1 1 Elfride De Baere
00332416 Fam3PatII2 PubMed: Ascari 2020 brother M - Germany - - - - - CRDHL best‐corrected visual acuity 0.63/0.63; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister normal rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; normal color vision; diabetes type 1 2 1 Elfride De Baere
00332419 Fam1PatIII5 PubMed: Ascari 2020 sister F - Belgium - - - - - ? 48y-best‐corrected visual acuity counting fingers at 70cm/counting fingers at 20cm ; Goldmann visual fields oculus dexter et sinister large central, absolute scotoma including blind spot, and pericentral visual field, normal peripheral limits with object V4; fundus imaging oculus dexter et sinister fundus virtually normal, except for mild reduction in vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse, mottled hyperautofluorescence is more pronounced in circle around central macula; optical coherence tomography oculus dexter et sinister thinning of foveal area with considerable loss of definition of outer retinal layers; full‐field flash electroretinography oculus dexter et sinister moderately reduced rod‐responses to half of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia; morbid obesity 1 1 Johan den Dunnen
00332553 - - - M - - - - - - - ? Cone/cone-rod dystrophy (HP:0000548); Cone dystrophy (HP:0008020) 1 1 IMGAG
00334024 543 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IB1b 1 1 LOVD
00361822 Pat39 PubMed: Bahena 2021 - F yes Iran - - - - - deafness, retinal degeneration - 1 1 Barbara Vona
00361825 Pat40 PubMed: Bahena 2021 - F yes Iran - - - - - deafness, retinal degeneration - 2 2 Barbara Vona
00361944 - - - M - - - - - - - ? Hearing impairment (HP:0000365); Rod-cone dystrophy (HP:0000510) 2 1 IMGAG
00362213 Pat8 PubMed: Fadaie 2021 - M - Israel - - - - - retinal disease - 1 1 Zeinab Fadaie
00389258 542 PubMed: Weisschuh 2020 Filing key number: 191, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00395427 F8‑III PubMed: Shen 2021 - F yes China - - - - - retinal disease Central vision impairment, counting fingers at at 1 m/0.02 1 1 LOVD
00430989 CEP78-18807 PubMed: Igelman 2021 - F no - - - - - - retinal disease see paper; ..., cataract; retinal pigmented epithelium mottling; 1d-mild progressive sensorineural hearing loss; vestibular symptoms 2 1 Johan den Dunnen
00430990 CEP78-2 PubMed: Igelman 2021 - F no - - - - - - retinal disease see paper; ..., no cataract; atrophy; 18y-moderately progressive sensorineural hearing loss; no vestibular symptoms 2 1 Johan den Dunnen
00430991 CEP78-3 PubMed: Igelman 2021 - F yes - - - - - - retinal disease see paper; ..., no cataract; no macular findings; 15y-mild sensorineural hearing loss, unclear progression; no vestibular symptoms 1 1 Johan den Dunnen
00430992 CEP78-4 PubMed: Igelman 2021 - F no - - - - - - retinal disease see paper; ..., cataract; atrophy, epiretinal membrane; ffERG severe cone-rod dystrophy; 1d-moderate sensorineural hearing loss, stable; no vestibular symptoms 2 1 Johan den Dunnen
00430993 CEP78-5 PubMed: Igelman 2021 - M - - - - - - - retinal disease see paper; ..., no cataract; no macular findings; ffERG severe cone-rod dystrophy; 50y-progressive sensorineural hearing loss; no vestibular symptoms 1 1 Johan den Dunnen
00430994 CEP78-87042 PubMed: Igelman 2021 - F no - - - - - - retinal disease see paper; ..., no cataract; retinal pigmented epithelium granularity; ffERG severe rod dysfunctio, moderate cone dysfunction ; 12y-severe sensorineural hearing loss, stable; no vestibular symptoms 1 1 Johan den Dunnen
00430995 CEP78-7 PubMed: Igelman 2021 - F yes - - - - - - retinal disease see paper; ..., no cataract; no macular findings; ffERG severe cone dysfunction; no sensorineural hearing loss; no vestibular symptoms 1 1 Johan den Dunnen
00436427 2694961 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - None RPar Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510 1 1 Rocio Villafuerte-de la Cruz
00447104 CRD-812 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447417 USHII-238 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00447432 USHII-347 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - ? - 2 4 Johan den Dunnen
00447520 CD-10 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
00450764 066767 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
00450765 066827 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
00450766 079818 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - macular dystrophy - 1 1 Rebekkah Hitti-Malin
00451069 066837 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - macular dystrophy - 1 1 Johan den Dunnen
00451262 073115 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - macular dystrophy - 1 1 Johan den Dunnen
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