All individuals with variants in gene PIGT

13 entries on 1 page. Showing entries 1 - 13.
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00024928 - PubMed: Kvarnung 2013 5-generation family, 4-affecteds (4F), unaffected heterozygous carrier relatives - yes Turkey Aramaic - 0 - - ID see paper, detailed description; incl. distinct facial features, hypotonia, seizures, abnormal skeletal,endocrine and ophthalmologic findings 1 4 Johan den Dunnen
00024929 - PubMed: Krawitz 2013, Journal: Krawitz 2013 - F no Germany - - 0 - - PNH-2 see paper, detailed description 2 1 Johan den Dunnen
00155218 - PubMed: Nakashima 2014 - F no Japan - - 0 - - - - 2 1 Philippe Campeau
00155219 Patient_1 PubMed: Lam 2015 - F no - Caucasian mother and African American father - 0 - - - - 2 2 Philippe Campeau
00155220 Patient_2 PubMed: Lam 2015 - M no - Caucasian mother and African American father - 0 - - - - 2 1 Philippe Campeau
00155221 Patient_1 PubMed: Skauli 2016 - M yes ? (unknown) Somalian - 0 - - - - 1 2 Philippe Campeau
00155222 Patient_2 PubMed: Skauli 2016 - M yes - Somalian - 0 - - - - 1 1 Philippe Campeau
00155223 - PubMed: Kohashi 2018 - M no - - - 0 - - - - 2 1 Philippe Campeau
00155224 258094 PubMed: Pagnamenta 2017 - F no - Caucasian - 0 - - - - 2 1 Philippe Campeau
00155225 270250 PubMed: Pagnamenta 2017 - M yes - Afghanistani - 0 - - - - 1 2 Philippe Campeau
00155226 270306 PubMed: Pagnamenta 2017 - M yes - Afghanistani - 0 - - - - 1 1 Philippe Campeau
00207529 Patient 3 PubMed: Kvarnung et al., 2018 - - - - - - 0 - - MCAHS-3;GPIBD-7 ID, seizures 1 1 Philippe Campeau
00207530 Proband PubMed: Yang et al., 2018 Homozygous PIGT variant in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay M no China Chinese >00y10m 0 - Anti-epileptic medications MCAHS-3;GPIBD-7 Multiple malformations, hypotonia, seizure and profound development delay. Dysmorphic features (high forehead, frontal bossing, narrow bitemporal, big eyes with slight orbital depression, esotropia, depressed nasal bridge, long philtrum, high palatine arch, wide and opening mouth, low auricular position). Hypotonia. Lower limb hyperreflexia. Normal ALP level. MRI shows external hydrocephalus, cortical hypoplasia, cerebellar vermis dysplasia. 2 1 Philippe Campeau
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