All individuals with variants in gene PIGT

18 entries on 1 page. Showing entries 1 - 18.
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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
00292936 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 29 Mohammed Faruq
00292937 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 66 Mohammed Faruq
00304858 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304859 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00305912 Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - 0 - - NDD, VMD no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal 1 1 Johan den Dunnen
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