All individuals with variants in gene TREX1

83 entries on 1 page. Showing entries 1 - 83.
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00112321 - Prof. YJ Crow, Univ Manchester, unpublished - - - Brazil - - - - - AGS1 Aicardi Goutieres Syndrome 2 1 Boukje de Vries
00112322 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - CHBL1 chilblain lupus 1 1 Boukje de Vries
00112323 - PubMed: Haaxma 2010 de novo heterozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112324 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished dominant heterozygous mutation - - - - - - - - CHBL1 familial chilblain lupus 1 1 Lampros Mavrogiannis
00112325 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112326 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 3 Lampros Mavrogiannis
00112327 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112328 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished single heterozygous mutation - second, if present, uncharacterised - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112329 - PubMed: Crow 2006 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 8 Boukje de Vries
00112330 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112331 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112332 - PubMed: Ramantani 2010 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112333 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112334 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112335 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112336 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112337 - PubMed: Crow 2006 homozygous and compound heterozygous mutation for AGS1, also identied as heterozygous mutation in SLE patient - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 18 Boukje de Vries
00112338 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished one case with heterozygosity for the RNASEH2B mutation c.529G>A as well - unclear significance - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 5 Lampros Mavrogiannis
00112339 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112340 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112341 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112342 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112343 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished single heterozygous mutation - second, if present, uncharacterised - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112344 - Prof. YJ Crow, Univ Manchester, unpublished - - - Belgium - - - - - AGS1 Aicardi Goutieres Syndrome 2 1 Boukje de Vries
00112345 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112346 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112347 - PubMed: Rice 2007 heterozygous mutation - - - - - - - - CHBL1 familial chilblain lupus 1 1 Boukje de Vries
00112348 - PubMed: Rice 2007 heterozygous mutation - - - - - - - - CHBL1 familial chilblain lupus 1 1 Boukje de Vries
00112349 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112350 - PubMed: Rice 2007 homozygous and compound heterozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112351 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112352 - PubMed: Crow 2006 homozygous mutation - - - - - - - - ? Cree Encephalitis 1 2 Boukje de Vries
00112353 - PubMed: Ramantani 2010 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112354 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112355 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished heterozygous variant - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112356 - PubMed: Ramantani 2010 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112357 - PubMed: Rice 2007 heterozygous de novo mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112358 - PubMed: Ramantani 2010 heterozygous, de novo mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112359 - PubMed: Crow 2006 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112360 - PubMed: Crow 2006 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112361 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112362 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112363 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112364 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112365 - PubMed: Ramantani 2010 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112366 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 2 1 Boukje de Vries
00112367 - PubMed: Richards 2007 heterozygous mutation - - - - - - - - RVCL retinal vasculopathy with cerebral leukodystrophy 1 5 Boukje de Vries
00112368 - PubMed: Richards 2007 heterozygous mutation - - - - - - - - RVCL retinal vasculopathy with cerebral leukodystrophy 1 1 Boukje de Vries
00112369 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112370 - PubMed: Richards 2007 heterozygous mutation - - - - - - - - RVCL retinal vasculopathy with cerebral leukodystrophy 1 1 Boukje de Vries
00112371 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112372 - PubMed: Richards 2007 heterozygous mutation - - - - - - - - RVCL retinal vasculopathy with cerebral leukodystrophy 1 1 Boukje de Vries
00112373 - PubMed: Richards 2007 heterozygous mutation - - - - - - - - RVCL retinal vasculopathy with cerebral leukodystrophy 1 1 Boukje de Vries
00112374 - PubMed: Ramantani 2010 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112375 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112376 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112377 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112378 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 2 Boukje de Vries
00112379 - PubMed: Gruver 2011 heterozygous mutation - - - - - - - - RVCL Retinal Vasculopathy with Cerebral Leukodystrophy 1 1 Boukje de Vries
00112380 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112381 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112382 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112383 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 Boukje de Vries
00112385 P18 - - M no China - >02y - - - ID HP:0000252; HP:0001999; HP:0007042; HP:0000639; HP:0000028; HP:0008081; HP:0002019; global developmental delay (HP:0001263) 2 1 Wenjuan Qiu
00112386 - PubMed: de Vries 2010 heterozygous mutation - - - - - - - - SLE neurophsychiatric systemic lupus erythematosus 1 1 Boukje de Vries
00209999 - - - F - Germany - - - - - - HP:0012159 (Internal carotid artery dissection); HP:0001382 (Joint hypermobility) 1 1 Andreas Laner
00295637 - - - ? - - - - - - - ? Aplasia/Hypoplasia of the cerebellum (HP:0007360); Abnormality of prenatal development or birth (HP:0001197); Abnormality of nervous system morphology (HP:0012639) 1 1 Andreas Laner
00308030 Pat9 PubMed: Mahler 2019 2-generation family, several affected, unaffected heterozygous carrier parents - no Germany - - - - - ? severe global developmental delay, leukodystrophy, cerebellar hypoplasia 1 2 Johan den Dunnen
00320006 171633 - - M ? Germany - - - - - RVCL Cerebral microangiopathy; unclear WML and suspected migraine headache DD CADASIL 1 1 Andreas Laner
00328367 690716 PubMed: Zhou 2018 - M - China - - - - - retinal disease - 1 1 LOVD
00328391 680722 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00328434 690986 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00363352 HM751 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00363370 HM866 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00374125 - PubMed: Lefebvre 2021 fetus F yes France - - - - - ? 26w-fetus, ultrasound Hydrops, intrauterine growth retardation; autopsy Hydrops, intrauterine growth retardation, cerebral calcification, hepatomegaly 1 1 Johan den Dunnen
00374876 S-5501 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00379401 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379435 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379447 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00382118 223 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - GLC3A anterior segment developmental anomalies including glaucoma; MIM, 225750 1 1 LOVD
00390041 G1517 PubMed: Liu 2020 - ? - China - - - - - retinal disease - 1 1 LOVD
00392914 P12 PubMed: Bergant 2021 - - - Italy - - - - - retinal disease endotheliopathy, retinopathy, nephropathy, hepatopathy and leukopathy; dysarthria, dysmetria, wide gait and psychomotor impairment; pancytopenia with low erythropoietin as well as low thyroid hormone levels 1 1 LOVD
00426946 50_59 PubMed: Zhu 2022 family 50, individual 59 F - - - - - - - retinal disease - 1 1 LOVD
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