All individuals with variants in gene TRPM3

9 entries on 1 page. Showing entries 1 - 9.
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00032349 - PubMed: Jang 2015, Journal: Jang 2015 4-generation family, 8 affecteds (5F, 3M) - - Korea - - - - - ? see paper; atypical Singleton-Merten syndrome; aortic calcification, glaucoma, skeletal abnormalities, .. 1 8 Johan den Dunnen
00416226 II-1 PubMed: Conte 2015 - F - - white British - - - - retinal disease registered blind; bilateral iris coloboma and a slowly progressive retinal dystrophy leading to marked loss of vision in late childhood or early adult life 1 1 LOVD
00416227 III-1 PubMed: Conte 2015 - F - - white British - - - - retinal disease registered blind; bilateral iris coloboma and a slowly progressive retinal dystrophy leading to marked loss of vision in late childhood or early adult life 1 1 LOVD
00416228 III-2 PubMed: Conte 2015 - M - - white British - - - - retinal disease registered blind; bilateral iris coloboma and a slowly progressive retinal dystrophy leading to marked loss of vision in late childhood or early adult life; congenital cataracts, underwent right cataract surgery at 7y 1 1 LOVD
00416229 III-3 PubMed: Conte 2015 - M - - white British - - - - retinal disease registered blind; bilateral iris coloboma and a slowly progressive retinal dystrophy leading to marked loss of vision in late childhood or early adult life 1 1 LOVD
00416230 IV-1 PubMed: Conte 2015 - F - - white British - - - - retinal disease similar phenotype to proband, diagnosed with bilateral iris colobomata and a progressive retinopathy in infancy; underwent bilateral cataract surgery at 30y subsequent, likely iatrogenic, retinal detachment in her left eye; registered as blind 30y; 42y: best corrected visual acuity right/left eye: hand movement / no perception of light 1 1 LOVD
00416231 V-1 PubMed: Conte 2015 - M - - white British - - - - retinal disease 18y: best corrected visual acuity right/left eye: 0.74 / 0.84, registered as partially sighted; mild hypermetropic astigmatism - refraction right, left eye: ‘+1.75/+0.50 x 100, ‘+2.25/+0.50 × 85; color vision: significantly compromised bilaterally (City University color vision test Ishihara color vision screening test); bilateral iris colobomata with iridolenticular adhesions present, no evidence of cataract; posterior segment examination: scattered retinal pigment epithelium mottling with retinal atrophy and attenuation of the retinal vasculature; optical coherence tomography: consistent with severe photoreceptor loss; electroretinography: extinguished right and left eye responses to all conditions except a minimal residual light-adapted 30-Hz flicker response;4 y before electrodiagnostics - less attenuated light-adapted resp 1 1 LOVD
00434149 family PubMed: Behnam 2016 6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives M - Iran - - - - - CTRCT congenital cataract, nystagmus 1 2 Johan den Dunnen
00457993 - - - F - - (not applicable) white - - - - NDD HP:0001249, HP:0011171, HP:0001272, HP:0000486, HP:0001884, HP:0000341, HP:0000494, HP:0100625, HP:0006610 1 1 Marketa Wayhelova
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