All individuals with variants in gene COL5A1

392 entries on 4 pages. Showing entries 1 - 100.
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00064761 SIDS005 PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland Europe 00y04m - - - SIDS SIDS 1 1 Cordula Haas
00104015 Vogelaar-520A 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
00132808 09683580-FamMK PubMed: Burrows 1998 5-generation family, 18 affecteds (7F, 11M) F;M no United Kingdom (Great Britain) - - - - - EDS Ehlers-Danlos Syndrome type II 1 18 Johan den Dunnen
00132809 09683580-FamCH PubMed: Burrows 1998 5-generation family, affecteds (6F, 8M) F;M no United Kingdom (Great Britain) - - - - - EDS Ehlers-Danlos Syndrome type II 1 14 Johan den Dunnen
00181164 59248 - - F - - - - - - - EE HP:0008936 HP:0001285 HP:0000639 HP:0000311 HP:0000160 HP:0000653 HP:0000286 HP:0003196 HP:0000463 HP:0000294 HP:0006610 1 1 Anaïs Begemann
00276001 patient PubMed: Errichiello 2021 2-generation family, 1 affected (M), unaffected heterozygous carrier parents/relatives M no Italy white 22y - yes - EDS atrophic scars, tall stature, arachnodactyly, severe myopia 2 1 Edoardo Errichiello
00276020 - - - F - - - - - - - - Abnormal elasticity of skin (HP:0010647); Abnormality of the curvature of the vertebral column (HP:0010674); Abnormality of skin morphology (HP:0011121); Mitral valve prolapse (HP:0001634); Abnormality of the aortic valve (HP:0001646); Bicuspid aortic valve (HP:0001647); Abnormality of the foot (HP:0001760); Pes planus (HP:0001763); Scoliosis (HP:0002650); Abnormality of the atrioventricular valves (HP:0006705) 1 1 Andreas Laner
00294797 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294798 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294799 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00294800 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 77 Mohammed Faruq
00294801 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00294802 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295542 - - - M - - - - - - - ? Abnormality of vitamin metabolism (HP:0100508); Vitamin D deficiency (HP:0100512); Abnormality of skeletal morphology (HP:0011842); Abnormal joint morphology (HP:0001367); Arthritis (HP:0001369); Joint hypermobility (HP:0001382); Abnormality of the skin (HP:0000951); Hyperextensible skin (HP:0000974) 1 1 Andreas Laner
00305237 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00306169 MF0519-M1089 PubMed: Chesneau 2021, Journal: Chesneau 2021 2-generation family, affected father (mosaic)/son M no France African - - - - EDS - 1 1 Philippe Khau Van Kien
00319546 - PubMed: Ritelli et al., 2013 Brother of affected individual AN_002536 and son of affected individual AN_002537. - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319547 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319548 - PubMed: Symoens et al., 2009 - - - - white - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319549 - PubMed: Symoens et al., 2009 - - - - white - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319550 - PubMed: Ritelli et al., 2013 This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319551 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319552 - PubMed: Junkiert-Czarnecka et al., 2019 The patient's father harbours the same two sequence variants and has the same clinical picture. This is suggestive, but not conclusive, evidence that the EDS I phenotype is the result of the variants. - - - white - - - - EDS, EDSCL1 - 2 1 Anna Junkiert-Czarnecka
00319553 Patient 54 PubMed: Leinøe et al., 2017 The technique used was whole exome sequencing. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319554 - PubMed: Modi et al., 2017 This patient was born from a pregnancy complicated by preterm premature rupture of membranes (PPROM). The technique used was whole exome sequencing. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319555 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319556 III-1 PubMed: Mao et al., 2017 The patient's father also carried the c.265C>T variant. The technique used was whole exome sequencing. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319557 - PubMed: Wenstrup et al., 2000 The variant results in the skipping of exon 2. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319558 - - Father of affected individual AN_002576. - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319559 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319560 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319561 - PubMed: Savasta et al., 2015 The proband presented with unilateral periventricular heterotopia and epilepsy.Details of the COL5A1 variant are not presented in the paper but were provided post-publication by the authors. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319562 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - - - - - - EDS, EDSCL1 - 1 1 Anna Junkiert-Czarnecka
00319563 Pat7 PubMed: Schubert 2016 - - - United States - - - - - TAAD Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319564 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319565 - PubMed: Morais et al., 2013 The variant is said to segregate with the EDS phenotype in the proband and in two earlier generations. However, the description of the proband's parents as healthy appears contradictory. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319566 - - Father of affected individual AN_006202, brother of affected individual AN_006203 and son of affected individual AN_006204.The technique used was the custom NGS Gene panel. - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319567 - PubMed: Malfait et al., 2005 The variant in this patient is incorrectly described as leading to p.R155fsX24. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319568 - PubMed: Malfait et al., 2005 The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing.The splice site variant results in skipping of exon 3 which results in a frameshift. - - - - - - - - EDS, EDSCL1 - 2 1 Sofie Symoens
00319569 P5 PubMed: Mitchell et al., 2009 - - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319570 - PubMed: Ritelli et al., 2013 This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319571 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319572 - PubMed: Grond-Ginsbach et al., 1999 The variant was found in siblings who are also described as Family III in PubMed: Martin et al., 2006. In that later study, the variant was also detected in 2 of 150 healthy control patients. This is strong evidence that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319573 - PubMed: Takahara et al., 2002 The major outcome of this variant is skipping of exons 5 and 6. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319574 - - For MLPA analyses the P331-B1 and P332-B1 probemixes from MRC Holland were used. The probemixes contain one probe for each exon of the COL5A1 gene with the exception of exons 12, 26, 33, 36, 39, 49, 54, 59 and 66. - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319575 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319576 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319577 - PubMed: Grond-Ginsbach et al., 1999 This variant was described as being at position 864 with respect to the reference sequence with accession number D90279. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319578 - PubMed: Weerakkody et al., 2016 Patient ID 429 - - - white - - - - EDS, EDSCL1 - 1 1 Ruwan Weerakkody
00319579 Patient 68 PubMed: Omoyinmi et al., 2017 This patient was diagnosed with livedo racemosa. The technique used was the custom NGS Gene panel. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319580 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319581 - PubMed: Emanuela et al., 2019 The patient has a daughter who was diagnosed for EDS hypermobility type. The patient is also diagnosed with hEDS due to flower-like collagen fibers, variable collagen fiber diameters, irregular interfiber spacing, and relatives diagnosed with hEDS/ - - - - - - - - EDS, EDSHMB Artery dissections, 1 1 Raymond Dalgleish
00319582 - - This patient has a diagnosis of Marfan syndrome (FBN1 positive), but on initial clinical evaluation was atypical for Marfan syndrome, initially classified as Other HDCT (phenotype largely outside EDS spectrum): Ghent systemic score =1, short stature, ectopia lentis, aortic enlargement, Mitral valve prolapse, family history of sudden death. [original ID: 66] - - - white - - - - TAAD Aortic aneurysms and/or dissection, 1 1 Ruwan Weerakkody
00319583 - PubMed: Weerakkody et al., 2016 Patient ID 627. - - - white - - - - EDS, EDSCL1 - 1 1 Ruwan Weerakkody
00319584 - PubMed: Symoens et al., 2011 The patient's phenotype is described as a severe form of EDS with severe kyphoscoliosis and eye involvement. The sequence variant adjacent to exon 7 also affects splicing of exon 6. mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319585 - PubMed: Symoens et al., 2012 mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319586 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - white - - - - EDS, EDSCL1 - 1 1 Anna Junkiert-Czarnecka
00319587 - PubMed: Wardeh et al., 2018 The technique used was whole exome sequencing. - - - Afro-Caribbean - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319588 Patient 70 PubMed: Omoyinmi et al., 2017 The patient was diagnosed with idiopathic alveolar hypoplasia and pulmonary hypertension. The technique used was the custom NGS Gene panel. - - India Indian - - - - ? - 2 1 Raymond Dalgleish
00319589 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319590 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319591 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319592 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - white - - - - EDS, EDSCL1 - 2 1 Anna Junkiert-Czarnecka
00319593 - PubMed: Junkiert-Czarnecka et al., 2019 - - - - white - - - - EDS, EDSCL1 - 2 1 Anna Junkiert-Czarnecka
00319594 - PubMed: Grond-Ginsbach et al., 1999 This variant was described as being at position 1218 with respect to the reference sequence with accession number D90279. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319595 Patient 9 PubMed: Ziganshin et al., 2015 The variant in this patient is described as being of Unknown significance.The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319596 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319597 - PubMed: Ritelli et al., 2013 Father of affected individuals AN_002504 and AN_002505.The splice site variant is predicted, in silico, to result in activation of a cryptic site 4 bases downstream with the effective loss of the first 4 bases of exon 8 and a frameshift as a consequence. This prediction has not been tested in vitro. - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319598 - - - - - - - - - - - EDS, EDSCL1 - 1 1 Anna Junkiert-Czarnecka
00319599 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319600 - - - - - - - - - - - EDS, EDSCL1 - 1 1 Francesca Ponti
00319601 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319602 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319603 - PubMed: Symoens et al., 2012 This patient was previously described as mutation-negative in the study of PubMed: Malfait et al., 2005. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319604 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319605 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319606 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319607 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319608 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319609 - PubMed: Yasuda et al., 2013 The patient presented with a ruptured superior mesenteric artery. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319610 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319611 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319612 - PubMed: Malfait et al., 2005 This variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319613 - PubMed: Malfait et al., 2005 The duplication variant in this patient is incorrectly described as an insertion (c.3450_3451insT) and the resulting frameshift is also incorrectly described as p.P1151fsX47. The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - 2 1 Sofie Symoens
00319614 - PubMed: Malfait et al., 2005 The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - EDS, EDSCL1 - 2 1 Sofie Symoens
00319615 - PubMed: Giunta et al., 2000 The patient's mother and daughter, both of whom are unaffected, each harbour the p.Gly530Ser variant, suggesting that the variant is not disease-causing. However, the variant may modify the disease phenotype.The c.1588G>A (p.Gly530Ser) variant is recorded in {dbSNP61735045}The technique used was ribonuclease T1 analysis (RNaseT1). The technique used was ribonuclease A analysis (RNaseA). - - - - - - - - EDS, EDSCL1 - 2 1 Raymond Dalgleish
00319616 - PubMed: Giunta et al., 2002 In a previous article by the same authors (PubMed: Giunta et al., 2000), the p.Gly530Ser variant was described as disease-modifying in the heterozygous state. In this study, in which the parents were first cousins, the authors suggest that the homozygous state is disease causing. However, the c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - Turkey Turkish - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319617 Patient 1 PubMed: Kiss et al., 2018 The patient's daughter carries the same variant, which co-segregated with her similar cEDS phenotype. There is contradictory data on the causality of this variant. It is found in 5% of both cEDS patients and healthy controls. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319618 III:6 PubMed: Barbato et al., 2018 Index patient (16F) and her family were affected by maxillary canine anomalies, including agenesis, impaction and ectopic eruption. The technique used was whole exome sequencing. - - - - - - - - ? Dental anomalies, 1 1 Raymond Dalgleish
00319619 P-32 PubMed: Viglio et al., 2008 - - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319620 - PubMed: Ritelli et al., 2013 This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319621 P6 PubMed: Mitchell et al., 2009 - - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319622 - - - - - - white - - - - EDS, EDSCL1 - 1 1 Anna Junkiert-Czarnecka
00319623 P16 PubMed: Schwarze et al., 2000 This variant results in the skipping of exon 15. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319624 III-3 PubMed: Bouma et al., 2001 The variant is incorrectly described in the review by PubMed: Malfait and De Paepe, 2005 as c.1570-2A>G. - - - - - - - - EDS, EDSCL2 - 1 1 Raymond Dalgleish
00319625 - PubMed: Weerakkody et al., 2016 Patient ID 1129.The variant in this patient was incorrectly reported as p.Leu557fsX - - - white - - - - EDS, EDSCL1 - 1 1 Ruwan Weerakkody
00319626 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319627 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319628 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319629 Patient 9 PubMed: Grelet et al., 2019 The technique used was the custom NGS Gene panel. - - - - - - - - EDS - 1 1 Raymond Dalgleish
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