All individuals with variants in gene GBE1

18 entries on 1 page. Showing entries 1 - 18.
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00073159 - ATX478 - F - France - - 0 - - SCAR - 1 1 Claire Guissart
00227817 - - - F - - - - 0 - - - HP:0001392 (Abnormality of the liver) 1 1 Gunnar Schmidt
00248435 Fam PubMed: Ravenscroft 2013 2-generation family, 3 affected fetuses (F, 2M), unaffected heterozygous carrier parents F;M no Australia - - 0 - - ? see paper; ..., lethal multiple pterygium syndrome 2 3 Johan den Dunnen
00274150 Pat14 PubMed: Pronicka 2016 - F - Poland - - 0 - - ? deceased; mitochondrial disease criteria score 3; muscle biopsy (+muscle biopsy from autopsy) 2 1 Johan den Dunnen
00293475 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00295481 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00296650 - - - M - - - - 0 - - ? EEG abnormality (HP:0002353); Intellectual disability (HP:0001249); Seizures (HP:0001250); Ataxia (HP:0001251); Tetraplegia/tetraparesis (HP:0030182); Subcortical cerebral atrophy (HP:0012157); Cerebral white matter atrophy (HP:0012762); Cerebral cortical atrophy (HP:0002120); Poor coordination (HP:0002370) 1 1 Andreas Laner
00304960 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00307234 D18-0978 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - DA arthrogryposis multiplex congenita 2 1 Gianina Ravenscroft
00314322 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00314323 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00329076 P4 PubMed: Wang 2013 - M - United States - - 0 - - GSD see paper; ..., neonatal demise, GBE deficiency 1 1 LOVD
00329114 - - - M no Belgium white - - - - APBN Proximal myopathy (biopsy proven) Hepatopathy 2 1 Jonathan De Winter
00380783 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - GSD4 Failure to thrive; hepatosplenomegaly; muscle weakness (Neurological) 1 1 LOVD
00411351 - - - F - - - - - - - GSD4 - 2 1 Ponghatai Damrongphol
00415292 A:II:A - Index case family A (Antwerp) M no Belgium White >57y - - - APBN Leukodystrophy, spinal cord atrophy, peripheral neuropathy, myopathy 2 2 Jonathan De Winter
00415299 B:II:A - - M no Belgium white >58y - - - APBN Leukodystrophy, spinal cord atrophy, pure motor axonal neuropathy, myopathy 2 1 Jonathan De Winter
00415302 C:II:A - - M no Belgium White >73y - - - APBN Leukodystrophy, spinal cord atrophy, sensorimotor peripheral neuropathy 2 1 Jonathan De Winter
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