All individuals with variants in gene PNKP

34 entries on 1 page. Showing entries 1 - 34.
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AscendingIndividual ID     
ID_report     
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Gender     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00132291 FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - DFNA see paper; ... 2 8 Hanno Bolz
00206896 20118933_Fam1 PubMed: Shen 2010 5-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Jordan;Palestine Palestine - - - - MCSZ;EIEE10 see paper; ... 1 1 Johan den Dunnen
00206897 20118933_Fam2 PubMed: Shen 2010 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M - Jordan;Palestine Palestine - - - - MCSZ;EIEE10 see paper; ... 1 2 Johan den Dunnen
00206898 20118933_Fam3 PubMed: Shen 2010 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes United States Palestine - - - - MCSZ;EIEE10 see paper; ... 1 2 Johan den Dunnen
00206899 20118933_Fam4 PubMed: Shen 2010 2-generation family, affectedher/sister brot, unaffected heterozygous carrier parents F;M no Saudi Arabia - - - - - MCSZ;EIEE10 see paper 1 2 Johan den Dunnen
00206900 20118933_Fam5 PubMed: Shen 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - MCSZ;EIEE10 see paper; ... 1 1 Johan den Dunnen
00206901 20118933_Fam6 PubMed: Shen 2010 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Germany;Ireland - - - - - MCSZ;EIEE10 see paper; ... 2 2 Johan den Dunnen
00206902 20118933-Fam7 PubMed: Shen 2010 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - United States Sweden;Italy;Ireland;England - - - - MCSZ;EIEE10 see paper; ... 2 2 Johan den Dunnen
00206903 23224214-Fam PubMed: Poulton 2013 8-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Netherlands - - - - - atrophy, cerebellar see paper; ... 1 3 Johan den Dunnen
00206904 25728773-Fam1Pat1 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Portugal - - - - - AOA see paper; … 2 2 Johan den Dunnen
00206905 25728773-Fam1Pat2 PubMed: Bras 2015 sister F - Portugal - - - - - AOA see paper; … 2 1 Johan den Dunnen
00206906 25728773-Fam2Pat3 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - - - - AOA see paper; … 1 1 Johan den Dunnen
00206907 25728773-Fam3Pat4 PubMed: Bras 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Portugal - - - - - AOA see paper; … 2 1 Johan den Dunnen
00206908 25728773-Fam4Pat5 PubMed: Bras 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Portugal - - - - - AOA see paper; … 2 1 Johan den Dunnen
00206909 25728773-Fam5Pat6 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - - - - AOA see paper; … 1 1 Johan den Dunnen
00206910 25728773-Fam6Pat7 PubMed: Bras 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - - - - AOA see paper; … 2 1 Johan den Dunnen
00206911 25728773-Fam7Pat8 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F yes Portugal - - - - - AOA see paper; … 1 2 Johan den Dunnen
00206912 25728773-Fam7Pat9 PubMed: Bras 2015 brother M yes Portugal - - - - - AOA see paper; … 1 1 Johan den Dunnen
00206913 25728773-Fam8Pat10 PubMed: Bras 2015 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Portugal - - - - - AOA see paper; … 1 2 Johan den Dunnen
00206914 25728773-Fam8Pat11 PubMed: Bras 2015 brother M - Portugal - - - - - AOA see paper; … 1 1 Johan den Dunnen
00225668 25558065-Fam11DG1510 PubMed: Alazami 2015, Journal: Alazami 2015 - - yes Saudi Arabia - - - - - ? see paper; …, primary microcephaly, global developmental delay, no seizures 1 1 Johan den Dunnen
00269530 - PubMed: Minardi 2020 - F - Italy - - - - - EE Epileptic Encephalopathy (HP:0200134) 2 1 Francesca Bisulli
00269879 - - - F - - - - - - - ? Microcephaly (HP:0000252); Spasticity (HP:0001257); Global developmental delay (HP:0001263); Limb joint contracture (HP:0003121); Muscular hypotonia of the trunk (HP:0008936) 2 1 IMGAG
00275659 FamMR121Pat1 PubMed: Santos-Cortez 2018 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - ID OFC 41cm; IQ 25, severe intellectual disability (HP:0010864); microcephaly 1 3 Johan den Dunnen
00275660 FamMR121Pat2 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - ID OFC 40cm; IQ 25, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275661 FamMR121Pat3 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 40cm; IQ 25, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00292181 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 19 Mohammed Faruq
00292182 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303146 T23141 PubMed: Carvill 2013 - M - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00320161 - - - F - - - - - - - ? Microcephaly (HP:0000252); 4-layered lissencephaly (HP:0006818); Short stature (HP:0004322); Seizure (HP:0001250); Cleft palate (HP:0000175); Mongolian blue spot (HP:0011369) 1 1 IMGAG
00361544 11DG1510 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, progressive microcephaly, seizures 1 1 Johan den Dunnen
00374445 S-2562 PubMed: Ganapathy 2019 - - - India - - - - - ? Microcephaly, global developmental delay, seizures and dysmorphism 2 1 Johan den Dunnen
00403855 TF015 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 2 1 Johan den Dunnen
00433357 Pat26 PubMed: Duerinckx 2021 patient F yes Turkey - - - - - microcephaly primary microcephaly; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA 1 1 Johan den Dunnen
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