All individuals with variants in gene ATRIP

44 entries on 1 page. Showing entries 1 - 44.
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00112321 - Prof. YJ Crow, Univ Manchester, unpublished - - - Brazil - - - - - AGS1 Aicardi Goutieres Syndrome 2 1 Boukje de Vries
00112325 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis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00112330 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112332 - PubMed: Ramantani 2010 compound heterozygous mutation with R114H - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 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00112335 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112336 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis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00112338 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished one case with heterozygosity for the RNASEH2B mutation c.529G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00112339 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112340 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 2 1 Lampros Mavrogiannis
00112341 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112342 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished - - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis
00112343 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished single heterozygous mutation - second, if present, uncharacterised - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 Lampros Mavrogiannis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 YJ Crow, Univ Manchester, unpublished - - - Belgium - - - - - AGS1 Aicardi Goutieres Syndrome 1 1 Boukje de Vries
00112346 - PubMed: Rice 2007 homozygous mutation - - - - - - - - AGS1 Aicardi-Goutieres Syndrome 1 1 1 Boukje de Vries
00112348 - PubMed: Rice 2007 heterozygous mutation - - - - - - - - CHBL1 familial chilblain lupus 1 1 Boukje de Vries
00112351 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - - - - SLE systemic lupus erythematosus 1 1 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
00112359 - PubMed: Crow 2006 compound heterozygous mutation with R114H - - - - - - - - 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
00112368 - PubMed: Richards 2007 heterozygous mutation - - - - - - - - RVCL retinal vasculopathy with cerebral leukodystrophy 1 1 Boukje de Vries
00112372 - 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
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
00248273 - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - cancer, breast 55y lobular breast cancer, subtype luminal A 1 1 Zdenek Kleibl
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
00447956 Fam1Pat Journal: Duthoo 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Belgium - - - - - microcephaly see paper; ..., birth severe microcephaly; developmental delay, dysmorphic features, failure to thrive, growth retardation, grossly normal skeletal development, mild intellectual disability 1 1 Lynn Backers
00462486 F46.1 Journal: Duthoo 2025 - M yes India - - - - - microcephaly see paper; ..., facial dysmorphism, short stature, microcephaly, moderate intellectual disabiity, recurrent respiratory tract infections 1 1 Simon J Tavernier
00462568 CV1720 Journal: Ogi 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Japan India-Gujarati - - - - SCKL see paper; ..., severe microcephaly, growth delay, dysmorphic facial feature; birth weight 2.06kg, OFC 27.1cm; 14m-- weight -5 SD, height -5 SD, OFC -9 SD; micrognathia, receding forehead, prominent nose; dental crowding; small ear lobes; bilateral 5th finger clinodactyly; delayed bone age (wrist/hips), symmetric dwarfism; MRI 14m-generalised cerebral atrophy, normal ventricular systems, delayed myelination anterior limb internal capsule, pituitary present though unusual shape with absent fossa 5 1 Johan den Dunnen
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