All individuals with variants in gene ATOH7

22 entries on 1 page. Showing entries 1 - 22.
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00265201 MEP57 2298 PubMed: Khan 2011 4 generation family, consanguineous, 5 affected M yes Pakistan - - - - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), detached retina (HP:0000541), no light perception (HP:0032287), microphthalmia (HP:0000568) 1 5 Jasmine Chen
00265208 NE1 F475 PubMed: Khan 2011 4 generation family, 2 affected M yes Turkey - - - - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), microphthalmia (HP:0000568), detached retina (HP:0000541), small optic nerve (HP:0008058) 1 2 Jasmine Chen
00265245 7101 PubMed: Kondo 2016 2 generation family, 1 affected M no Japan - - - - lensectomy EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541), bilateral leukocoria (HP:0000555), blindness (HP:0000618) 1 1 Jasmine Chen
00265251 12001 PubMed: Kondo 2016 sporadic F ? Japan - - - - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral falciform retinal folds (HP:0001493) 1 1 Jasmine Chen
00265252 15402 PubMed: Kondo 2016 2 generation family, 2 affected (F, M), unaffected heterozygous carrier father F no Japan - - - - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), syndactyly (HP:0001159), renal failure (HP:0000083) left eye total retinal detachment (HP:0000541) 1 2 Jasmine Chen
00265265 14501 PubMed: Kondo 2016 sporadic M ? Japan - - - - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral rhegmatogenous retinal detachment (HP:0012230) 1 1 Jasmine Chen
00265290 10877 PubMed: Ghiasvand 2011 9 generation consanguineous family, 42 affected ? ? Iran Kurdish (Iranian) ? - - - EVR;FEVR nonsyndromic congenital retinal nonattachment (severe subtype of familial exudative vitreoretinopathy; HP:0030490), lack of optic nerve (HP:0008058), leukocoria (HP:0000555) 1 42 Jasmine Chen
00265301 ONA Patient 1 PubMed: Prasov 2012 2 generation family, 1 affected - optic nerve aplasia F no - - - - - - ID, hypoplasia, optic nerve, bilateral optic nerve aplasia (HP:0012521), poor sensory integration, auditory processing defects; global developmental delay (HP:0001263); motor delay (HP:0001270); delayed social development (HP:0012434); speech delay (HP:0000750) 1 1 Jasmine Chen
00265313 PHPV Patient V-5 PubMed: Prasov 2012 6 generation family, 5 affected (previously reported in PubMed: Khaliq 2011) - yes Pakistan - - - - - PHPVAR persistent hyperplasia of the primary vitreous (PHPV, HP:0007968), gross nystagmus (HP:0000639) 1 5 Jasmine Chen
00274319 ONH Patient 2 PubMed: Macgregor 2010PubMed: Prasov 2012 originally described in McGregor ? ? United Kingdom (Great Britain) - - - - - hypoplasia, optic nerve, bilateral - 1 1 Jasmine Chen
00335201 NCRNA5 PubMed: Keser 2017 - - - Pakistan - - - - - retinal disease see paper; ... 1 1 LOVD
00335202 NCRNA6 PubMed: Keser 2017 - - - Pakistan - - - - - retinal disease see paper; ... 1 1 LOVD
00335204 NCRNA4 PubMed: Keser 2017 - - - Pakistan - - - - - retinal disease see paper; ... 1 1 LOVD
00416616 ? PubMed: Macgregor 2010 - - - - - - - - - retinal disease - 1 1 LOVD
00416620 72005 PubMed: Atac 2020 sibling of 71953 F - - - - - - - retinal disease 2.5y: esotropia, 4y: myopic astigmatism; 7y: hospital due to unexplained low vision despite corrective glasses and amblyopia treatment; cognitively normal, excellent grades at school; best corrected visual acuity right, left eye, distance: 20/100, 20/200; near: 20/80, 20/100; left microesotropia; refraction: myopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 11y; fundus: bilateral severe optic nerve hypoplasia, signs of foveal hypoplasia and abnormal vessel distribution with tortuosity and drag of the retinal vessels towards the temporal side; no sign of microphthalmia or microcornea; optical coherence tomography: significantly reduced thickness of the retinal nerve fiber layer as well as the ganglion cell and inner plexiform layers; grade 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pit; cerebral magnetic resonance imaging: severely hypoplastic optic nerves within small optic nerve sheaths; no abnormalities of midline structures or other brain areasmeasurements right/left eye: total macular volume, mm3: not available/7.53; central macular thickness, um: not available/284; ganglion cell layer and the inner plexiform layer, mm3: not available/not available; retinal nerve fiber layer thickness, um: not available/not available; optic nerve head diameter: not available (hypoplasia)/not available 2 1 LOVD
00416621 71953 PubMed: Atac 2020 sibling of 72005 F - - - - - - - retinal disease 2y: esotropia; 3y: reduced visual function; cognitively normal, excellent grades at school during the observation period; best corrected visual acuity right, left eye,near: 20/200, 20/100; orthoptic assessment: right microesotropia with eccentric fixation superior to the presumed foveolar; refraction: hyperopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 6y; fundus: bilateral severe optic nerve hypoplasia, signs of foveal hypoplasia and abnormal vessel distribution with tortuosity and drag of the retinal vessels towards the temporal side; peripheral retina: incomplete vascularization of the far peripheral retina, without visible signs of neovascularization; no sign of microphthalmia or microcornea; optical coherence tomography: significantly reduced thickness of the retinal nerve fiber layer as well as the ganglion cell and inner plexiform layers; grade 2 hypoplasia with absent extrusion of plexiform layers and absent foveal pitmeasurements right/left eye: total macular volume, mm3: 7.28/not available; central macular thickness, um: 278/not available; ganglion cell layer and the inner plexiform layer, mm3: 0.33/not available; retinal nerve fiber layer thickness, um: 28/not available; optic nerve head diameter: not available (hypoplasia)/not available 2 1 LOVD
00416622 71965 PubMed: Atac 2020 father of 72005 and 71953 M - - - - - - - retinal disease grade 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pitmeasurements right/left eye: total macular volume, mm3: 9.32/9.34; central macular thickness, um: 300/302; ganglion cell layer and the inner plexiform layer, mm3: 0.85/0.84; retinal nerve fiber layer thickness, um: 104/104; optic nerve head diameter: 1589 x 1754/1635 x 1819 1 1 LOVD
00451536 FamBPatVI3 PubMed: Basharat 2024 6-generation family, 6 affected (2F, 4M) F yes Pakistan - - - - - ? no night vision; no perception light; no nystagmus; no corneal haze; no photophobia 1 6 Rabia Basharat
00451537 FamBPatVI4 PubMed: Basharat 2024 brother M yes Pakistan - - - - - ? no night vision; no perception light; no nystagmus; no corneal haze; no photophobia 1 1 Rabia Basharat
00451538 FamBPatVI5 PubMed: Basharat 2024 niece F yes Pakistan - - - - - ? no night vision; no perception light; no nystagmus; no corneal haze; no photophobia 1 1 Rabia Basharat
00469711 patients PubMed: Garcia-Montalvo 2014 - - - Mexico - - - - - MCOP microphthalmia-anophthalmia-coloboma 1 2 Johan den Dunnen
00469712 patients PubMed: Garcia-Montalvo 2014 - - - Mexico - - - - - MCOP microphthalmia-anophthalmia-coloboma 1 2 Johan den Dunnen
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