All individuals with variants in gene HNRNPUL2-BSCL2

34 entries on 1 page. Showing entries 1 - 34.
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00002855 - PubMed: Irobi et al., 2004 5 generation family, 12 mutationpositive reported - no Italy - - - - - HMN5A HMN II, dHMN 1 12 María-Jesús Sobrido
00002856 - PubMed: Irobi et al., Brain 2004 5 generation family, 17 mutationpositive reported - no Belgium - - - - - SPG17 Silver syndrome 1 17 María-Jesús Sobrido
00002858 - PubMed: Brugman et al., J. Neurol. 2009 27 affected - ? Denmark - - - - - HMN5A Hereditary spastic paraparesis and primary lateral sclerosis 1 27 María-Jesús Sobrido
00002859 - PubMed: Brusse et al., Neurogenetics 2009 4 generation family, 11 mutationpositive reported - no Netherlands - - - - - HMN5A dHMN 1 11 María-Jesús Sobrido
00002860 - PubMed: Cafforio et al., Neurol. Sci. 2008 2 generation family, 2 mutation positive reported - ? Italy - - - - - SPG17 Silver syndrome 1 2 María-Jesús Sobrido
00002861 - PubMed: Chen et al., Neuropathology 2009 4 generation family, 5 mutation positive reported - ? China - - - - - HMN5A dHMN 1 5 María-Jesús Sobrido
00002862 - PubMed: Dierick et al., Brain 2008 - ? ? - - - - - - HMN5A - 1 1 María-Jesús Sobrido
00002863 - PubMed: Dierick et al., Brain 2008 - ? ? Poland - - - - - HMN5A - 1 1 María-Jesús Sobrido
00002864 - PubMed: Dierick et al., Brain 2008 - ? ? Netherlands - - - - - SPG17 Silver syndrome 1 1 María-Jesús Sobrido
00002865 - PubMed: Dierick et al., Brain 2008 - ? ? India - - - - - SPG17 Silver syndrome 1 1 María-Jesús Sobrido
00002866 - PubMed: Dierick et al., Brain 2008 - ? ? Belgium - - - - - SPG17 Silver syndrome 1 1 María-Jesús Sobrido
00002867 - PubMed: Dierick et al., Brain 2008 - ? ? Switzerland - - - - - SPG17 Silver syndrome 1 1 María-Jesús Sobrido
00002873 - PubMed: Gomes 2004 2 generation family, 3 affected F yes Brazil - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002874 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002875 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002876 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002877 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002882 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002890 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002892 - PubMed: Huang et al., Kaohsiung J. Med. Sci. 2010 2 generation family, 1 affected M no Taiwan - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002893 - PubMed: Boutet et al., Biochimie 2009 1 affected M ? Norway - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002894 - PubMed: Boutet et al., Biochimie 2009 2 affected - ? Portugal - - - - - CGL2 - 1 2 María-Jesús Sobrido
00002896 - PubMed: Boutet et al., Biochimie 2009 1 affected - ? Turkey - - - - - CGL2 - 1 1 María-Jesús Sobrido
00002898 - PubMed: Kochanski et al., Neurol. Neurochir. 2007 3 generation family, 1 mutation positive reported M ? Poland - - - - - SPG17 Silver syndrome 1 1 María-Jesús Sobrido
00002899 - PubMed: Luigetti et al., Muscle Nerve 2010 3 mutation positive reported - ? Italy - - - - - HMN5A CMT2/dHMN and piramidal signs 1 3 María-Jesús Sobrido
00002901 - PubMed: RakocevicStojanovic et al., J. Neurol. Sci. 2010 5 generation family, 3 mutation positive reported - no - - - - - - SPG17 SS, dHMN, Asymptomatic 1 3 María-Jesús Sobrido
00002906 - PubMed: Wu et al., J. Neurol. Neurosurg. Psychiatry 2009 1 affected M ? Taiwan - - - - - CGL2 dystonia 1 1 María-Jesús Sobrido
00002914 - PubMed: GuillenNavarro 2013 4generation family, 1 affected F yes Spain - - - - - CGL2 BerardinelliSeip congenital lipodystrophy, type 2 (BSCL2); 16m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, no spasticity, ataxic gait, sleep disturbances, no lipodystrophy, no muscular hypertrophy, no acanthosis nigricans, no hypertrichosis, no diabetis mellitus, no cardiomyopathy, unknown hyper-triglyceridemia, no hepatomegaly; 19m-walk; 4y-seizures, neurological involution; 6y-deceased 1 1 Johan den Dunnen
00002955 - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier F no Spain - - - - - Healthy/Control - 1 1 Johan den Dunnen
00002967 - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier M no Spain - - - - - Healthy/Control - 1 1 Johan den Dunnen
00002971 - PubMed: Guillen-Navarro 2013 4-generation family, affected male patient 3 M no Spain - 7y - - - CGL2 walk 13m; 24m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, spasticity, ataxic gait, sleep disturbances, lipodystrophy, muscular hypertrophy, no acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, no hyper-triglyceridemia, no hepatomegaly; 2.5y-seizures; 4y-neurological involution; 7y-died of respiratory infection; lipodystrophy (HP:0009125) 1 1 Johan den Dunnen
00002973 - PubMed: Guillen-Navarro 2013 4-generation family, affected female patient 5 F no Spain - >4y - - - CGL2 walk 16m; 18m-psychomotor delay; max. language acquisition simple sentences, hyperactive/irritable, no spasticity, no ataxic gait, no sleep disturbances, lipodystrophy, no muscular hypertrophy, acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, hyper-triglyceridemia, hepatomegaly; 3y-no seizures, no neurological involution; lipodystrophy (HP:0009125) 1 1 Johan den Dunnen
00290462 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 43 Mohammed Faruq
00290463 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
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