All individuals with variants in gene TRIM2

4 entries on 1 page. Showing entries 1 - 4.
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00293559 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293560 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 31 Mohammed Faruq
00400214 Patient 1 PubMed: Magri 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy Italy >20y - - - CMT Bilateral talipes equinovarus (HP:0001776), Motor delay (HP:0001270), Sensorimotor neuropathy (HP:0007141), Vocal cord paralysis (HP:0001605), Bilateral facial weakness (HP:0001349), Dyspnea (HP:0002094), No abnormality of the vestibulocochlear nerve (-HP:0009591), No dysphagia (-HP:0002015), No tongue atrophy (-HP:0012473), Generalized hypotonia (HP:0001290), Areflexia of lower limb (HP:0002522), Reduced tendon reflexes (HP:0001315), Broad-based gait (HP:0002136), Foot dorsiflexor weakness (HP:0009027), No abnormal brainstem MRI signal intensity (-HP:0012747), No abnormality of visual evoked potentials (-HP:0000649), No abnormal auditory evoked potentials (-HP:0006958), Distal upper limb muscle amyotrophy (HP:0007149), Distal upper limb muscle weakness (HP:0008959), Fatiguable weakness of proximal limb muscles (HP:0030200), Restrictive ventilatory defect (HP:0002091), Diaphragmatic weakness (HP:0009113), Hoarse voice (HP:0001609), Distal amyotrophy (HP:0003693), Proximal amyotrophy (HP:0007126), Hand muscle weakness (HP:0030237), Impaired vibration sensation in the lower limbs (HP:0002166), Flexion contracture (HP:0001371), Scoliosis (HP:0002650), Abnormal thorax morphology (HP:0000765), No cognitive impairment (-HP:0100543), No visual impairment (-HP:0000505), No hearing impairment (-HP:0000365) 2 1 Yvet den Hartog
00400911 Patient 2 PubMed: Magri 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - >14y - - - CMT Sensorimotor neuropathy (HP:0007141), No decreased nerve conduction velocity (-HP:0000762), Abnormal single motor unit action potential (HP:0033767), No abnormal brainstem MRI signalintesity (-HP:0012747), No abnormality of the vertebral column (-HP:0000925), Distal upper limb muscle weakness (HP:0008959), Split hand (HP:0001171), Lagopthalmos (HP:0030001), Dyspnea (HP:0002094), Dysphagia (HP:0002015), Stridor (HP:0010307), Nasal speech (HP:0001611), Tongue fasciculations (HP:0001308), Movement abnormality of the tongue (HP:0000182), Hand muscle weakness (HP:0030237), Axial weakness (HP:0003327), Foot dorsiflexor weakness (HP:0009027), Limited knee flexion (HP:0006389), Pelvic organ prolapse (HP:0031607), Inability to walk (HP:0002540), Impaired vibration sensation in the lower limbs (HP:0002166), No abnormality of pain sensation (-HP:0010832), No impaired temperature sensation (-HP:0010829), Abnormal peripheral nervous system morphology (HP:0000759), Abnormal cranial nerve morphology (HP:0001291), Reduced forced vital capacity (HP:0032341), Apnea (HP:0002104), Bilateral talipes equinovarus (HP:0001776), Motor delay (HP:0001270), Vocal cord paralysis (HP:00010605), Bilateral facial weakness (HP:0001349), Dyspnea (HP:0002094), Abnormality of the vestibulocochlear nerve (HP:0009591), Dysphagia (HP:0002015), Tongue atrophy (HP:0012473), Decreased amplitude of sensory action potentials (HP:0007078) 2 1 Yvet den Hartog
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