All individuals with variants in gene COL1A2

1411 entries on 15 pages. Showing entries 1 - 100.
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00080921 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - OI3 Osteogenesis imperfecta, type III (OMIM:259420) 1 1 Daniel Trujillano
00104012 Vogelaar-512A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00105906 27380894-Fam1PatV7 PubMed: Lindert 2016, Journal: Lindert 2016 5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7 M no Thailand AsianO - - - - OI osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia 1 12 Cecilia Giunta
00131877 - - - - - Germany - - - - - OI1 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00132061 1 - - M yes Brazil - - - - - OI2 - 1 1 Karina Silveira
00132062 2 - - F no Brazil - - - - - OI3 - 1 1 Karina Silveira
00132063 3 - - F ? Brazil - - - - - OI3 - 1 1 Karina Silveira
00132773 - - - - - Germany - - - - - OI - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00265729 Family3-P7 - - F ? Switzerland - 19y - - - EDS - 1 1 Lucia Micale
00265732 Family6-P10 - family, 2 affected M - - - - - - - EDS long face, mild facial asymmetry, mild left esotropia, blue sclerae, soft and doughy skin all over the body, mild skin hyperextensibility of the limbs, hypermobility of the fingers and knees (Beighton score 6/8), accentuated dorsal kyphosis, flatfeet with extreme pronation of the hindfoot, genua valga, bilateral hallux valgus, and underdevelopment of the leg muscles 1 2 Lucia Micale
00265733 Family6-P11 - - M - - - 30y - - - EDS - 1 1 Lucia Micale
00265738 Family10-P16 - - - - Italy - - - - - EDS - 1 1 Lucia Micale
00265739 Family1-P1 - - M - Italy - - - - - EDS EDS-related features. OI-related features were limited to mildly reduced bone mass, occasional fractures and short stature 1 1 Lucia Micale
00265740 Family2-P6 - - F - Switzerland - - - - - EDS - 1 1 Lucia Micale
00265741 Family11-P17 - - - - Canada - - - - - EDS - 1 1 Lucia Micale
00294516 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294517 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294518 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00299938 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 2 Yousuke Higuchi
00299939 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299961 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299962 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299963 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299964 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299965 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299966 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299967 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299968 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299969 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; 1 1 Yousuke Higuchi
00299970 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299971 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299972 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299973 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299974 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299975 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299976 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299977 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299978 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299979 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00299980 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) 1 1 Yousuke Higuchi
00300364 Fam18 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300365 Fam19 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300366 Fam20 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300367 Fam21 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300368 Fam22 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300369 Fam23 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300370 Fam24 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300371 Fam25 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300372 Fam26 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300373 Fam27 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - OI - 1 1 Johan den Dunnen
00300405 Fam58 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300406 Fam59 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300407 Fam60 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300408 Fam61 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300409 Fam62 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300410 Fam63 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300411 Fam64 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300412 Fam65 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300413 Fam66 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300414 Fam67 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300415 Fam68 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300416 Fam69 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300417 Fam70 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300418 Fam71 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300419 Fam72 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300420 Fam73 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00300421 Fam74 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300422 Fam75 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - OI - 1 1 Johan den Dunnen
00300423 Fam76 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - OI - 1 1 Johan den Dunnen
00306112 OI-pat1 - - M no India - - - - - OI - 1 1 Ashis Kumar
00320168 - - - ? - - - - - - - ? Skeletal dysplasia (HP:0002652) 1 1 IMGAG
00320567 UA08 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI4 - 1 1 Lidiia Zhytnik
00320574 UA85 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI1 - 1 1 Lidiia Zhytnik
00322824 - - - - - - - - - - - OI, OI4 - 1 1 Isabel Mandy Nesbitt
00322826 - PubMed: Schwarze et al., 2004 Both mutations result in null alleles. - - - - - - - - EDS - 2 1 Peter Byers
00322827 - PubMed: Zhuang et al., 1996 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 - - - - - - - - - ? - 1 1 Raymond Dalgleish
00322829 - - Complete sequencing of COL1A1 and COL1A2, no other changes detected - - - - - - - - OI - 1 1 Isabel Mandy Nesbitt
00322830 - Morlino et al., submitted 2019 Father of affected individual AN_005716. - - - - - - - - EDS Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap, 1 1 Marina Colombi, Marco Ritelli
00322831 - - - - - - Brazilian - - - - OI, OI1 Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta), 1 1 Lilia D'Souza-Li
00322832 - PubMed: Giunta and Steinmann, 2008 The deletion causes skipping of exon 6. The patient's daughter also harbours the same mutation. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322833 - PubMed: Byers et al., 1997 The mutation in this patient in terms of genomic coordinates is g.11990_12072del - - - - - - - - EDS, EDSARTH2 - 1 1 Peter Byers
00322834 - PubMed: Byers et al., 1997 - - - - - - - - - EDS, EDSARTH2 - 1 1 Peter Byers
00322835 - PubMed: Marini et al., 2007 (Marini, Cabral and Pals, personal communication) - - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322836 - PubMed: Klaassens et al., 2011 The mutation results in use of a cryptic splice site 15 bases into exon 6, resulting in the loss of the first 5 amino acids. - - - white - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322837 - PubMed: Byers et al., 1997 - - - - - - - - - EDS, EDSARTH2 - 1 1 Peter Byers
00322838 - PubMed: Chiodo et al., 1992 The mutation acivates a cryptic splice acceptor in exon 6 resulting in the loss of the first 5 amino acids encoded by that exon. - - - - - - - - EDS, EDSARTH2 Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap, 1 1 Raymond Dalgleish
00322839 - PubMed: Strobel et al., 1992 PubMed: Yoneyama et al., 2004 PubMed: Chan et al., 2008 PubMed: Bodian et al., 2009 - - - - - - - - - ? - 1 1 Raymond Dalgleish
00322840 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - 1 1 Peter Byers
00322841 - PubMed: Weil et al., 1989b Skips exon 6. The mutation was demonstrated to be temperature-sensitive in this patient. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322842 - PubMed: Weil et al., 1990 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322843 - PubMed: Vasan et al., 1991 Skips exon 6.The technique used was S1 nuclease. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322844 - PubMed: Nicholls et al., 1991 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322845 - PubMed: Watson et al., 1992 Skips exon 6. The clinical details of the proband and members of her family were previously described by {PMID3621666:Viljoen et al., 1987}. - - - - - - - - EDS, EDSARTH2 - 1 1 Peter Byers
00322846 - PubMed: Lehmann et al., 1994 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322847 - PubMed: Giunta et al., 1999 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322848 - PubMed: Klaassens et al., 2011 - - - - white - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322849 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - 1 1 Peter Byers
00322850 - PubMed: Byers et al., 1997 Skips exon 6. - - - - - - - - EDS, EDSARTH2 - 1 1 Peter Byers
00322851 - PubMed: Nicholls et al., 2000 Skips exon 6. The proband's mother is somatically mosaic for the same mutation. - - - - - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
00322852 - PubMed: Klaassens et al., 2011 The patient's father has mild symptoms of EDS but somatic mosaicism was not demonstrated by mutation analysis of blood, fibroblast and saliva DNA. - - - white - - - - EDS, EDSARTH2 - 1 1 Raymond Dalgleish
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