All individuals with variants in gene TRNT1

31 entries on 1 page. Showing entries 1 - 31.
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00232390 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232391 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 6 Yoshito Koyanagi
00232392 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232393 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 2 Yoshito Koyanagi
00232394 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 3 Yoshito Koyanagi
00232395 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232396 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 1 Yoshito Koyanagi
00232397 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - retinal disease - 1 14 Yoshito Koyanagi
00333860 80 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA1a 2 1 LOVD
00333915 286 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - retinal disease clinical category IA1aiii 2 2 LOVD
00413740 Patient 1 PubMed: Giannelou-2018 - F yes - Saudi Arabian - - - - retinal disease Vertigo, febrile seizures during febrile episodes 1 1 LOVD
00413741 Patient 2 PubMed: Giannelou-2018 - F yes - Saudi Arabian - - - - retinal disease Dizziness/ vertigo, opsoclonus during febrile episodes. Mild developmental delay 1 1 LOVD
00413742 Patient 3 PubMed: Giannelou-2018 - M no - Mixed European - - - - retinal disease Optic nerve atrophy ; Severe growth retardation, hypotonia, developmental delay. Seizures; suspected CNS MAS. Abnormal brain MRI (end stage cerebral damage; hemorrhage, volume loss and leukomalacia) 2 1 LOVD
00413743 Patient 4 PubMed: Giannelou-2018 - F no - Mixed European - - - - retinal disease Early retinal degeneration ; Developmental delay and speech delay. Mildly wide based gait, intermittent opsoclonus and nystagmus (worse with fevers).; Bilateral sensorineural hearing loss; cochlear implants. Normal inner ear MRI. 2 1 LOVD
00413744 Patient 5 PubMed: Giannelou-2018 - F no - Mixed European - - - - retinal disease Retinitis pigmentosa, retinal degeneration, and optic nerve atrophy. Hyperopia, bilateral cataracts. Pseudophakia status post cataract surgery. Myopic astigmatism. Legally blind; Developmental delay, improved. Mild deficits (mild ataxia and proximal muscle weakness, mild balance difficulties. Absent reflexes at the ankles); Bilateral sensorineural hearing loss; cochlear implants. 2 1 LOVD
00413745 Patient 6 PubMed: Giannelou-2018 - M no - Mixed European - - - - retinal disease Retinitis pigmentosa; decreased night time vision. Hyperopic astigmatism; Mild developmental delay, resolved. Attention deficit disorder. 2 1 LOVD
00413746 Patient 7 PubMed: Giannelou-2018 - F no - Mixed European - - - - retinal disease Retinitis pigmentosa. Decreased night time vision; Mild developmental delay. History of central catheter-related venous thrombosis of superior vena cava complicated by pseudotumor cerebri. 2 1 LOVD
00413747 Patient 8 PubMed: Giannelou-2018 - M no - Mixed European - - - - retinal disease Bilateral sensorineural hearing loss; cochlear implants. Bilateral cataracts.; Developmental delay 2 1 LOVD
00413748 Patient 9 PubMed: Giannelou-2018 - F no - Mixed European - - - - retinal disease Retinitis pigmentosa. Bilateral sensorineural hearing loss; hearing aids; Developmental delay 2 1 LOVD
00413749 Patient 1 PubMed: DeLuca-2016 - M - - - - - - - retinal disease pigmentary changes in the retina; nyctalopia at age 16y; VA with a low myopic correction was 20/20 OU 1 1 LOVD
00413750 Patient 2 PubMed: DeLuca-2016 - M - - - - - - - retinal disease VA with a high myopic correction was 20/40 OD and 20/32 OS; optic nerve heads demonstrated mild pallor and a cup-to-disc ratio of 0.25 OU. There was significant macular edema OU. The retinal arterioles were mildly attenuated; diffuse atrophy of the retinal pigment epithelium in the periphery OU. 2 1 LOVD
00413751 Patient 3 PubMed: DeLuca-2016 - M - - - - - - - retinal disease absent scotopic responses and severely diminished photopic responses OU.VA with contact lenses was 20/40 OD and 20/32 OS. Mild pallor and a cup-to-disc ratio of 0.2 OU. Significant macular edema OU. The retinal arterioles were mildly attenuated, and the retinal pigment epithelium showed diffuse atrophy OU. 2 1 LOVD
00413752 Patient 1 PubMed: Wedatilake-2016 - F no - European - - - - retinal disease episodes characterised by fever, diarrhoea and vomiting, metabolic acidosis, electrolyte imbalance (episodic hyponatraemia, hypokalaemia, hypocalcaemia, hypomagnesaemia and hypophosphataemia), elevated hepatic transaminases and raised inflammatory markers; severe hypogammaglobulinaemia with B cell maturation arrest 1 1 LOVD
00413753 Patient 2 PubMed: Wedatilake-2016 - M no - European - - - - retinal disease central hypotonia, retinal pigmentation, hepatosplenomegaly and exocrine pancreatic insufficiency. He died at 10 months 1 1 LOVD
00413754 Patient 3 PubMed: Wedatilake-2016 - F yes - Pakistani - - - - retinal disease recurrent episodes of fever; global developmental delay, retinitis pigmentosa and bilateral sensorineural deafness 1 1 LOVD
00413755 Patient 4 PubMed: Wedatilake-2016 - M yes - Pakistani - - - - retinal disease global developmental delay and hypotonia with a microcytic anaemia; underwent bone marrow transplantation 1 1 LOVD
00413756 Patient 1 PubMed: Hull-2016 - F yes - Indian - - - - retinal disease hypogammaglobulinemia; bilateral, posterior subcapsular cataracts; BCVA: 0.10 logMAR OD and 0.14 logMAR OS 1 1 LOVD
00413757 Patient 2 PubMed: Hull-2016 - M yes - Indian - - - - retinal disease hypogammaglobulinemia; alsohadpoor balance; posterior subcapsular cataracts at 6y; mild disc pallor; BCVA: 0.12 logMAR (20/25 Snellen equivalent) OU at 13y 1 1 LOVD
00413758 Patient 3 PubMed: Hull-2016 - F yes - Indian - - - - retinal disease hypogammaglobulinemia; profound sensorineural hearing loss; right cochlear implant surgery was performed at 3 years; dense right cataract was noted at 2 years; a mild left, posterior subcapsular cataract became dense over 2 months; BCVA: 20/25 OD and 20/20 OS 1 1 LOVD
00429828 - PubMed: Panneman 2023 - F - - - - - - - RP - 2 1 Daan Panneman
00435627 BAB4646 PubMed: Calame 2023 - - - United States - - - - - NDD severe developmental delay/intellectual disability, primary immunodeficiency 2 1 Johan den Dunnen
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