Disease #00885 (AGS1 (Aicardi-Goutieres syndrome, type 1, dominant and recessive (AGS1)), OMIM:225750)

Official abbreviation AGS1
Name Aicardi-Goutieres syndrome, type 1, dominant and recessive (AGS1)
OMIM ID 225750
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 42
Phenotype entries for this disease 42
Associated with 1 gene TREX1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

42 entries on 1 page. Showing entries 1 - 42.
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00112321 - Prof. YJ Crow, Univ Manchester, unpublished - - - Brazil - - - - - AGS1 Aicardi Goutieres Syndrome TREX1 ATRIP, TREX1 2 1 Boukje de Vries
00112323 - PubMed: Haaxma 2010 de novo heterozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 1 Boukje de Vries
00112325 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 1 1 Lampros Mavrogiannis
00112326 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 TREX1 1 3 Lampros Mavrogiannis
00112327 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 TREX1 2 1 Lampros Mavrogiannis
00112328 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished single heterozygous mutation - second, if present, uncharacterised - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 TREX1 1 1 Lampros Mavrogiannis
00112329 - PubMed: Crow 2006 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 8 Boukje de Vries
00112330 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 2 1 Lampros Mavrogiannis
00112331 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 TREX1 2 1 Lampros Mavrogiannis
00112332 - PubMed: Ramantani 2010 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112333 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 TREX1 1 1 Lampros Mavrogiannis
00112334 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 2 Boukje de Vries
00112335 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 1 1 Lampros Mavrogiannis
00112336 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 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 TREX1 ATRIP, TREX1 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 TREX1 ATRIP, TREX1 1 5 Lampros Mavrogiannis
00112339 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 2 1 Lampros Mavrogiannis
00112340 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 2 1 Lampros Mavrogiannis
00112341 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 2 1 Lampros Mavrogiannis
00112342 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 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 TREX1 ATRIP, TREX1 1 1 Lampros Mavrogiannis
00112344 - Prof. YJ Crow, Univ Manchester, unpublished - - - Belgium - - - - - AGS1 Aicardi Goutieres Syndrome TREX1 ATRIP, TREX1 2 1 Boukje de Vries
00112345 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 1 Boukje de Vries
00112346 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112349 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 2 Boukje de Vries
00112350 - PubMed: Rice 2007 homozygous and compound heterozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 2 Boukje de Vries
00112353 - PubMed: Ramantani 2010 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112354 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112355 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished heterozygous variant - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 TREX1 1 1 Lampros Mavrogiannis
00112356 - PubMed: Ramantani 2010 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 1 Boukje de Vries
00112357 - PubMed: Rice 2007 heterozygous de novo mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 1 Boukje de Vries
00112358 - PubMed: Ramantani 2010 heterozygous, de novo mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 1 Boukje de Vries
00112359 - PubMed: Crow 2006 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 2 Boukje de Vries
00112360 - PubMed: Crow 2006 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 2 Boukje de Vries
00112361 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 2 Boukje de Vries
00112362 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112363 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 2 Boukje de Vries
00112365 - PubMed: Ramantani 2010 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112374 - PubMed: Ramantani 2010 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 1 Boukje de Vries
00112375 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 ATRIP, TREX1 1 2 Boukje de Vries
00112376 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome TREX1 ATRIP, TREX1 1 1 Lampros Mavrogiannis
00112378 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 TREX1 TREX1 1 2 Boukje de Vries
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