All individuals with variants in gene IQSEC2

22 entries on 1 page. Showing entries 1 - 22.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 6 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 6 1 Yu Sun
00016979 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 8 affected males, 7 unaffected heterozygous carrier females M no United States ? - 0 - - MRX;IDX see paper; ... 1 8 Johan den Dunnen
00016980 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems M no Australia 8 - 0 - - MRX;IDX moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ... 1 1 Johan den Dunnen
00016981 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 8 unaffected heterozygous carrier females M no Australia - - 0 - - MRX;IDX all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia) 1 12 Johan den Dunnen
00017014 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Andreas Tzschach
00017015 - - - F - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Andreas Tzschach
00024236 - PubMed: Gilissen 2014 - - - - - - 0 - - ID severe ID, microcephaly, epilepsy, progressive spasticity, small hands/feet, poor vision 1 1 Johan den Dunnen
00038739 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 4 affected males, 2 unaffected heterozygous carrier females, 1 learning problems M no Australia - - 0 - - MRX;IDX see paper; ... 1 4 Johan den Dunnen
00081545 - Ewans et al EJHG submitted 2016 - F no (Australia) - - 0 - - EE ADHD, Intellectual disability 1 1 Cheryl Shoubridge
00089214 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - 0 - - EE symptomatic generalized epilepsy 1 1 Johan den Dunnen
00102092 P22 - - M no China - >02y07m 0 - - ID HP:0004322 HP:0001999 HP:0000639 HP:0001290 1 1 Wenjuan Qiu
00108458 26733290-Fam PubMed: Madrigal 2016 3-generation family, 3 affected males, 3 unaffected heterozygous carrier females M - Spain - - 0 - - ID see paper; ... 1 3 Irene Madrigal
00150176 26539891-FamBAB4892 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? corpus callosum dysgenesis 1 1 Johan den Dunnen
00174867 01362 Cheryl Shoubridge - F ? Finland Finnish - 0 68 - ID See manuscript, TBA 1 1 Marie Shaw
00183166 25644381-FamN83 PubMed: Hu 2016 family, 1 affected M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00229645 - - - M - - - - 0 - - ? Epileptic encephalopathy (HP:0200134); Intellectual disability (HP:0001249); Spastic tetraparesis (HP:0001285); Autistic behavior (HP:0000729) 1 1 IMGAG
00230654 - - - F - - - - 0 - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00274290 - 2-generation family, 2 affected - M no Czech Republic white >09y 0 - antiepileptic drug therapy epilepsy biotinidase deficiency, intellectual disability, developmental delay, autistic features, cortical blindness, intractable atonic seizures 1 2 Marketa Wayhelova
00274291 - - brother of 00274290 M no Czech Republic white >02y 0 - antiepileptic drug therapy epilepsy biotinidase deficiency not related to epilepsy and neurodevelopmental disorders, intractable seizures, developmental delay, central hypotonia biotinidase deficiency not related to neurodevelopmental disorders 1 1 Marketa Wayhelova
00295076 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295497 - - - F - - - - 0 - - ? Severe global developmental delay (HP:0011344) 1 1 Andreas Laner
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