All individuals with variants in gene POLG

104 entries on 2 pages. Showing entries 1 - 100.
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00000042 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000078 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000086 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00016320 - - - M no Italy - - - - - DRVT - 1 1 Lab Zuffardi
00036538 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036539 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036540 - - - - - Germany - - - - - ? Leigh syndrome 1 1 Andreas Laner
00036541 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036542 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036543 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036544 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036545 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036546 - - - - - Germany - - - - - ? FIRES 1 1 Andreas Laner
00036547 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036548 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036549 - - - - - Germany - - - - - ? suspected CPEO, since 3-4 years impaired vision (flickering before the eyes, double vision), ptosis left>right 1 1 Andreas Laner
00036550 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036551 - - - - - Germany - - - - - ? epileptic encephalopathy , cardiopulmonary reanimation perinatal, ventilation, dysphagia, ASD II; family history: brother died (same disease) 1 1 Andreas Laner
00036552 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036553 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036554 - - - - - Germany - - - - - ? cerebellar syndrome 1 1 Andreas Laner
00036555 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036556 - - - - - Germany - - - - - ? suspected SANDO syndrome, epilepsy, mental retardation, ataxia, dysarthria 1 1 Andreas Laner
00036557 - - - - - Germany - - - - - ? suspected Alpers syndrome, occipital epilepsy 1 1 Andreas Laner
00036558 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036559 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036560 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036561 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036562 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036563 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036564 - - - - - Germany - - - - - ? suspected progressive myoklonic epilepsiy (Unverricht-Lundborg-disease), since the seventh year of life disorders of psychological development , epilepsy with myoklonic and grand-mal-seizures , hepatomegaly with cholestatic hepatitis, diabetes mellitus type 2, ataxia -mild pyramidalsyndrome, strabismus with diplopia and mild extrapyramidal symptomatology, family history:cousin of father died from hepatic disease at the age of 38 1 1 Andreas Laner
00036565 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036566 - - - - - Germany - - - - - ? severe abnormal development with Myelinisierungsstörung, progressive brain atrophy and epilepsy,Valproat-Therapy is planned 1 1 Andreas Laner
00036567 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036568 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036569 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036570 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036571 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036572 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036573 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036574 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036575 - - - - - Germany - - - - - ? ptosis and mild CPEO; suspected autosomal dominant inheritance, sister of index ptosis, mild tetraparesis and white matter lesions in cMRT,father of index and his sister affected with CPEO; other patient: neonatal myoklonic seizures 1 1 Andreas Laner
00036576 - - - - - Germany - - - - - ? ptosis and mild CPEO; suspected autosomal dominant inheritance, sister of index ptosis, mild tetraparesis and white matter lesions in cMRT,father of index and his sister affected with CPEO; other patient: neonatal myoklonic seizures 1 1 Andreas Laner
00080863 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - PEOB1 Progressive external ophthalmoplegia, autosomal recessive 1 (OMIM:258450) 1 1 Daniel Trujillano
00105903 - Castiglioni, submitted - F no Chile - - - - - ? mitochondrial distal myopathy with cachexia, sensory-motor neuropathy, mitochondrial myopathy, congenital cataracts and glaucoma 3 1 Fabiana Fattori
00105904 - Castiglioni, submitted - F no Chile - - - - - ? generalized muscle wasting with distal tetraparesis,acute glaucoma, secondary myelin abnormalities 3 1 Fabiana Fattori
00105907 - Castiglioni, submitted - M no Italy - - - - - ? mitochondrial distal myopathy with cachexia, sensory-motor neuropathy, mitochondrial myopathy, congenital cataracts and glaucoma 2 1 Fabiana Fattori
00177006 71693 - - M no Switzerland - - - - - EE HP:0008936 HP:0002078 HP:0002066 HP:0002522 HP:0001761 HP:0000154 HP:0004533 2 1 Anaïs Begemann
00207382 - - also has a dominant MYH7 mutation with cardiomyopathy F no Portugal white >52y - - ubiquinone 200 mg daily CPEO - 3 3 André Militão
00209012 28771251-Pat14 PubMed: Lionel 2018 - F - Canada - - - - - ? Complex neurological phenotype 1 1 Johan den Dunnen
00210176 - - - F - Germany - - - - - - HP:0003198 (Myopathy); HP:0011805 (Abnormality of muscle morphology) 1 1 Andreas Laner
00219070 28902413-Pat80 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - HSN PEO, MERRF, sensory ataxic neuropathy; no family history 2 1 Johan den Dunnen
00219071 28902413-Pat81 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - HSN PEO, MERRF, sensory ataxic neuropathy; no family history 3 1 Johan den Dunnen
00248133 - - - F - - - - - - - - HP:0003198 (Myopathy); HP:0001324 (Muscle weakness); HP:0011804 (Abnormality of muscle physiology) 1 1 Andreas Laner
00269588 - - - M no Korea - - - - - LCA - 2 1 Jinu Han
00274205 Pat113 PubMed: Pronicka 2016 no family history M - Poland - - - - - ? deceased; mitochondrial disease criteria score 4; muscle biopsy 2 1 Johan den Dunnen
00291319 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 90 Mohammed Faruq
00291320 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291321 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291322 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291323 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 65 Mohammed Faruq
00291324 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291325 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291326 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 12 Mohammed Faruq
00291327 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291328 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291329 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00291330 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00291331 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291332 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00291333 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00296539 - - - F - - - - - - - ? Sensorimotor neuropathy (HP:0007141) 1 1 Andreas Laner
00299686 - - - M - - - - - - - ? Seizures (HP:0001250) 1 1 Andreas Laner
00301394 - - - F - Germany - - - - - ? Ataxia (HP:0001251); Tremor (HP:0001337) 1 1 Andreas Laner
00304485 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307458 Fam32PatLP149 PubMed: Stalke 2018 - - - Germany - - - - - MTDPS liver fibrosis with portal hypertension 2 1 Johan den Dunnen
00308747 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00309883 - - - F - - - - - - - ? Ptosis (HP:0000508) 3 1 Andreas Laner
00314395 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00324340 - - - F - - - - - - - ? Mitochondrial inheritance (HP:0001427); Mitochondrial myopathy (HP:0003737); Mitochondrial encephalopathy (HP:0006789); Epilepsia partialis continua (HP:0012847) 1 1 IMGAG
00324868 Fam1 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - NDD see paper; ..., birth 41w, weight -0.3SD, length -0.3SD; weight +0SD, length +0.6SD, OFC +0.6SD; mild intellectual disability/developemental delay; seizures; motor delay; speech delay; 12-24m-first words; autistic behaviour; stereotypies with echolalia; hyperactivity; anxiety; aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; hypothyroidy, growth hormone deficiency 1 1 Johan den Dunnen
00334900 Pat4 PubMed: Tao 2011, PubMed: Sandford 2016 2-generation family, affected sister/brother and sibling (of sister) F - United States - - - - - epilepsy myoclonic seizures, generalized EEG pattern, ataxia; brother with same variants and similar clinical phenotype with myoclonic seizures and generalized discharges 3 3 Johan den Dunnen
00334912 Pat4-sib PubMed: Sandford 2016 sibling patient 4 M - United States - - - - - epilepsy see paper; ..., atypical Unverricht Lundborg disease (early-onset myoclonus epilepsy, ataxia) 3 1 Johan den Dunnen
00374447 S-1439 PubMed: Ganapathy 2019 - - - India - - - - - ? Mitochondrial cytopathy, basal ganglia abnormality, cerebral atrophy, encephalopathy, generalized seizures, epilepsy, delayed motor development, failure to thrive, regression of milestones since 15 months of age, hypotonia, and attention and cognitive deficit 1 1 Johan den Dunnen
00374767 S-5822 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00384650 patient PubMed: Lin 2021 2-generation family, 1 affected, unaffected heterozygous carrier mother M no China - - - - - CPEO strabismus (HP:0000486), ophthalmoplegia (HP:0000602), bilateral ptosis (HP:0001488), exotropia ( HP:0000577), ophthalmoparesis ( HP:0000597), Abnormality of eye movement ( HP:0000496) 2 1 Giovanna Aschettino
00387997 patient PubMed: Hedberg-Oldfors 2020 2-generation family, 1 affected, unaffected heterozygous carrier relatives M no Sweden - - - - - PEOA bilateral ptosis (HP:0001488), horizontal ophthalmoplegia (HP:0000602), slight bilateral sensory-neuronal hearing impairment (HP:0008619), atrophy of the mesencephalon pedunculus cerebelli superior (HP:0001272), frontotemporal parts of the brain (HP:0006892) 2 1 Giovanna Aschettino
00388005 Fam1PatII1 PubMed: Phillips 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother/relatives F no Germany - - - - - CMT Impaired vibration sensation in the lower limbs (HP:0002166), Impaired pain sensation (HP:0007328), Ophthalmoparesis (HP:0000597), Decreased amplitude of sensory action potentials (HP:0007078), normal to reduced motor responses in the feet Chronic denervation signs (HP:0003444), Postural instability (HP:0002172) 2 1 Giovanna Aschettino
00388009 Fam2PatII1 PubMed: Phillips 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - CMT Global developmental delay (HP:0001263), delayed speech), Postural instability (HP:0002172), Abnormality of the Achilles tendon (HP:0005109), Achalasia (HP:0002571), Ankle weakness (HP:0031374), Weakness of the intrinsic hand muscles (HP:0009005), Proximal muscle weakness (HP:0003701), Impaired vibratory sensation (HP:0002495), Impaired pain sensation (HP:0007328), EMG: chronic denervation signs (HP:0003444) 2 1 Giovanna Aschettino
00388180 37 PubMed: Surl 2020 - M - Korea - - - - - retinal disease Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: FC/FC, fundus: Pigmentary retinopathy, Marbled fundus, ERG: Extinguished, additional features: Chronic pancreatitis, Nephronophthisis, Caroli disease, Hypotonia, Mental retardation, Leigh-like syndrome 2 1 LOVD
00396466 101 PubMed: Sudha 2017 - M - (United States) - - - - - retinal disease retinoschisis with developmental delay, sensorineural hearing loss, and reduced axial tone 1 1 LOVD
00402846 199792 - - M no United States white - - - - MTDPS4B Multiple autoimmune diagnoses (psoriasis, eosinophilic colitis, inflammatory arthritis) 1 2 Jessica L. Schnell
00428413 208205 - - M no Germany - - - - - MTDPS4A Status epilepticus, Refractory drug response, Developmental stagnation at onset of seizures, Hemiparesis, Myoclonus, Decreased liver function, Fatal liver failure in infancy, Seizure, Developmental stagnation at onset of seizures, Infantile muscular hypotonia 2 1 Andreas Laner
00435463 Pat1 PubMed: Sajan 2019 -generation family, 1 affected, unaffected heterozygous parents - - United States - - - - - RLSDF see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, café au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs 1 1 Johan den Dunnen
00438678 HSJ0652 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00453109 Pat65 PubMed: Rots 2024, Journal: Rots 2024 - M - - - - - - - NDD see paper; ... (very detailed phenotype descriptions) 1 1 Johan den Dunnen
00454711 NGSP98 PubMed: Legati 2016 2-generation family, affected patient, mother and brother M - - - - - - - mitochondrial myopathy 1 3 Daniele Ghezzi
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