All individuals with variants in gene GNAT1

53 entries on 1 page. Showing entries 1 - 53.
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00100084 61130 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - CSNB - 1 1 James Hejtmancik
00240436 - - - M - Mexico - - - - - RD - 1 1 Juan Carlos Zenteno
00246588 - PubMed: Szabo 2007 4-generation family, 9 affected (3F, 9M) F;M no Denmark - - - - - CSNB see paper; ... 1 9 Johan den Dunnen
00246589 - PubMed: Naeem 2012 5-generation family, 4 affected (F, 3M) F;M yes Pakistan - - - - - CSNB see paper; ... 1 4 Johan den Dunnen
00246590 - PubMed: Carrigan 2016 - M - Ireland - - - - - CSNB see paper; ..., lifelong night-blindness, significant pigmentary disturbance, constriction of visual fields (retinitis pigmentosa) 1 1 Johan den Dunnen
00309171 - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - retinal disease - 1 2 Global Variome, with Curator vacancy
00309172 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00325499 3662 PubMed: Zenteno 2020 family - - Mexico - - - - - retinal disease retinitis pigmentosa 1 1 Johan den Dunnen
00328392 680975 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00328393 690765 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00328394 680650 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00363363 HM783 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00363364 HM665 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00372628 RP373 PubMed: Xu 2014 family F - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372701 RP391 PubMed: Xu 2014 - - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00376529 - PubMed: Zeitz-2009 - - - - - - - - - retinal disease - 1 1 LOVD
00379402 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379403 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379404 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00382547 409 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00390044 G1502 PubMed: Liu 2020 - ? - China - - - - - retinal disease - 1 1 LOVD
00392629 104 PubMed: Ma 2021 - ? - Korea - - - - - retinal disease - 2 1 LOVD
00395849 F253 PubMed: Chen 2021 - ? - Taiwan - - - - - retinal disease - 1 1 LOVD
00413598 XI:1 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1724 M - France - - - - - retinal disease - 1 1 LOVD
00413599 XI:4 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1725 M - France - - - - - retinal disease - 1 1 LOVD
00413600 XI:6 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1726 F - France - - - - - retinal disease - 1 1 LOVD
00413601 XI:8 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1727 M - France - - - - - retinal disease - 1 1 LOVD
00413602 XI:13 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1728 M - France - - - - - retinal disease - 1 1 LOVD
00413603 XII:1 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1729 F - France - - - - - retinal disease - 1 1 LOVD
00413604 XII:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1730 M - France - - - - - retinal disease - 1 1 LOVD
00413605 XII:14 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1731 M - France - - - - - retinal disease - 1 1 LOVD
00413606 IX:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1719 F - France - - - - - retinal disease - 1 1 LOVD
00413607 X:2 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1720 M - France - - - - - retinal disease - 1 1 LOVD
00413608 X:6 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1721 M - France - - - - - retinal disease - 1 1 LOVD
00413609 X:8 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1722 M - France - - - - - retinal disease - 1 1 LOVD
00413610 X:12 PubMed: Dryja 1996 12-generation French family, first documented case lived in France 1637-1723 M - France - - - - - retinal disease - 1 1 LOVD
00413613 II.1 PubMed: Mejecase 2016 - M - France French / Italian - - - - retinal disease no relevant personal medical history, no familial history of night blindness or retinal disease besides high myopia on father side; best corrected visual acuity and refraction right; left eye: 20/80, -9(-1)160deg ; 20/63 -6(-1.50)20deg; color vision desaturated Farnworth 15Hue: a tritan axis defect; kinetic visual field tests: bilateral abnormalities with a relative preservation of the central 30deg with the III4e stimulus; full field electroretinogram: undetectable for both scotopic and photopic responses in keeping with severe rod-cone dysfunction; multifocal electroretinogram responses: undetectable; fundus: optic nerve pallor, narrowed retinal vessels, pigment clumping in retinal periphery some of which resembling more to coarse numular pigment rather than classical bone spicules, as well as perifoveal atrophic changes; short-wavelength fundus autofluorescence: hypo-autofluorescent lesions in the periphery as well as in the perifoveal area; spectral domain optical coherence tomography: thinning of the outer retinal layers 1 1 LOVD
00413620 I:1 PubMed: Zeitz 2018;PubMed: Marmor 2018 proband M - - Hong-Kong Chinese - - - - retinal disease postural orthostatic tachycardia syndrome (POTS) (MIM: 604715); best corrected visual acuity right, left eye: 20/25, 20/20, roughly -10 D myopic; no nystagmus or strabismus; retinal exam: unremarkable except for tilted myopic discs and some myopic depigmentation particularly in the peripapillary area; widefield and central fundus autofluorescence: no retinal degeneration, spectral domain optical coherence tomography: maculae normal; visual evoked potential: normal; electroretinogram: typical findings of Riggs-type CSNB with no rod response to a weak (0.01) or strong (3.0) scotopic flash, and the combined rod-cone 3.0 scotopic response looked like a cone b-wave, photopic 3.0 cone and flicker responses: essentially normal 1 1 LOVD
00413621 II:1 PubMed: Zeitz 2018;PubMed: Marmor 2018 proband's daughter F - - Hong-Kong Chinese - - - - retinal disease postural orthostatic tachycardia syndrome (POTS) (MIM: 604715); best corrected visual acuity right, left eye: 20/25, 20/20; roughly -3 D myopic; no nystagmus or strabismus; retinal exam: unremarkable except for tilted myopic discs and some myopic depigmentation particularly in the peripapillary area; widefield and central fundus autofluorescence: no retinal degeneration, spectral domain optical coherence tomography: maculae normal; electroretinogram: typical findings of Riggs-type CSNB with no rod response to a weak (0.01) or strong (3.0) scotopic flash, and the combined rod-cone 3.0 scotopic response looked like a cone b-wave, photopic 3.0 cone and flicker responses: essentially normal 1 1 LOVD
00413623 II:1 PubMed: Kubota 2019 proband M - Japan Japanese - - - - retinal disease best corrected visual acuity: 1.0 both eyes, no nystagmus or strabismus; fundus examination under light-adapted conditions: slight golden appearance, dark-adapted: Mizuo-Nakamura phenomenon not observed after three hours of dark adaptation; fundus autofluorescence: normal; spectral domain optical coherence tomography: unremarkable with the ellipsoid and interdigitation zones intact; electroretinogram: scotopic a-waves extinguished; a-waves of the mixed rod-cone responses markedly reduced, and the b-waves present, but severely reduced - negative-type electroretinograms; oscillatory potentials of the mixed rod-cone electroretinograms: relatively well-preserved; amplitudes of the photopic b-waves: mildly reduced; implicit times of the cone electroretinograms: delayed 1 1 LOVD
00413624 II:2 PubMed: Kubota 2019 proband's sister 1 F - Japan Japanese - - - - retinal disease best corrected visual acuity: 1.0 both eyes, no nystagmus or strabismus; fundus examination under light-adapted conditions: slight golden appearance, dark-adapted: Mizuo-Nakamura phenomenon not observed after three hours of dark adaptation; fundus autofluorescence: normal; spectral domain optical coherence tomography: unremarkable with the ellipsoid and interdigitation zones intact; electroretinogram: scotopic a-waves extinguished; a-waves of the mixed rod-cone responses markedly reduced, and the b-waves present, but severely reduced - negative-type electroretinograms; amplitudes of the photopic b-waves: severely reduced; implicit times of the cone electroretinograms: delayed 1 1 LOVD
00413625 II:3 PubMed: Kubota 2019 proband's sister 2 F - Japan Japanese - - - - retinal disease best corrected visual acuity: 1.0 both eyes, no nystagmus or strabismus; fundus examination under light-adapted conditions: slight golden appearance, dark-adapted: Mizuo-Nakamura phenomenon not observed after three hours of dark adaptation; fundus autofluorescence: normal; spectral domain optical coherence tomography: unremarkable with the ellipsoid and interdigitation zones intact; electroretinogram: scotopic a-waves extinguished; a-waves of the mixed rod-cone responses markedly reduced, and the b-waves present, but severely reduced - negative-type electroretinograms; oscillatory potentials of the mixed rod-cone electroretinograms: relatively well-preserved; amplitudes of the photopic b-waves: mildly reduced; implicit times of the cone electroretinograms: delayed 1 1 LOVD
00415046 - - - M no India Asian >56y - yes none CSNB - 2 1 Srilekha Sundar
00420550 F253 PubMed: Chen 2021 - - - Taiwan - - - - - retinal disease - 1 1 LOVD
00426646 III-1 PubMed: Hayashi 2020 proband's daughter F - Japan Japanese - - - - retinal disease decimal best corrected visual acuity and refraction right, left eye: 0.35 (+ 2.50 diopter sphere) / 0.2 (+ 3.25 diopter sphere), 5y: best corrected visual acuity: nearly 1.0; slit-lamp examination: no remarkable findings; retinal examination: gray discoloration within the vascular arcade in the fundus photographs, fundus autofluorescence: hypoautofluorescent macular area with a hyperautofluorescent ring; optical coherence tomography: disrupted ellipsoid zone with foveal thinning; dark-adapted full-field electroretinogram right eye: non-recordable rod response to a weak flash (dark adaptation 0.01), severely decreased a- and b-wave responses to a strong flash (dark adaptation 3.0), but notably about one-third of normal response to a stronger flash (dark adaptation 200) 1 1 LOVD
00426647 III-2 PubMed: Hayashi 2020 proband's son M - Japan Japanese - - - - retinal disease 5y: best corrected visual acuity and refraction right, left eye: 0.7 (+ 0.25 diopter sphere) / 0.7 (+ 0.25 diopter sphere); slit-lamp and funduscopy examination: no remarkable findings; fundus autofluorescence: a hyperautofluorescent ring around the macula; optical coherence tomography: a thickened external limiting membrane; 6y8m best corrected visual acuity right, left eye: decreased to 0.1 / 0.15; optical coherence tomography: disappearance of the thickened ELM and thinner foveal thickness compared to that at 5 years of age - progressive loss of visual acuity; dark-adapted full field electroretinography: very similar to those of patient III-1; photopic cone (light-adapted 3.0) and 30-Hz flicker (light-adapted 3.0 flicker) responses: severely decreased 1 1 LOVD
00426648 I-2 PubMed: Hayashi 2020 proband's maternal aunt; I:3 on the pedigree F - Japan Japanese - - - - retinal disease good visual acuity, never complained of visual symptoms except for congenital night blindness 1 1 LOVD
00426649 II-2 PubMed: Hayashi 2020 proband F - Japan Japanese - - - - retinal disease never complained of visual symptoms except for night blindness; no systemic medical history; decimal best corrected visual acuity and refraction right, left eye: 1.2 (- 1.75 diopter sphere) / 1.5 (- 1.75 diopter sphere; slit-lamp examination: no abnormal findings in the anterior segment and media. funduscopy, fundus autofluorescence, cross-sectional macular optical coherence tomography: no remarkable findings; full field electroretinography: non-recordable rod response to a weak flash (dark adaptation 0.01 cd s m-2; dark adaptation 0.01) in rod electroretinogram but at least half of a- and b-wave responses in dark adaptation 3.0, dark adaptation 10.0, and dark adaptation 200 electroretinogram after 30 min of dark-adaptation in the right eye, as well as after 24 h of dark adaptation in the left eye; dark adaptation 3.0 responses: distinguishing delayed and broadened a-waves and negative-type waveforms (b/a ratio less than 1.0); photopic cone (light-adapted 3.0 cd s m-2; light-adapted 3.0) and 30-Hz flicker (light-adapted 3.0 flicker) responses: completely normal, clear on and off responses observed 1 1 LOVD
00426650 II-3 PubMed: Hayashi 2020 proband's sister F - Japan Japanese - - - - retinal disease decimal best corrected visual acuity and refraction right, left eye: 1.5 (- 1.00 diopter sphere) / 1.5 (- 0.50 diopter sphere); slit-lamp examination, funduscopy, fundus autofluorescence, cross-sectional macular optical coherence tomography: no remarkable findings; full field electroretinography: very similar to those of the proband (II-2) 1 1 LOVD
00426651 II-4 PubMed: Hayashi 2020 proband's maternal aunt's daughter 1, also had an affected sister (untested) F - Japan Japanese - - - - retinal disease good visual acuity, never complained of visual symptoms except for congenital night blindness 1 1 LOVD
00430113 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00444225 Pat2 PubMed: Kim 2021 - M - Korea - - - - - CSNB see paper; ..., no strabismus, no nystagmus 1 1 Johan den Dunnen
00447316 SRP-1246 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
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