All individuals with variants in gene COL5A2

119 entries on 2 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00080065 - - - - - Germany - - - - - EDS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00207803 - - - F - Germany - - - - - - HP:0000767 (Pectus excavatum); HP:0001634 (Mitral valve prolapse); HP:0002622 (Dissecting aortic aneurysm); HP:0002943 (Thoracic scoliosis); HP:0000545 (Myopia) 1 1 Andreas Laner
00292512 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 207 Mohammed Faruq
00292513 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292514 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 64 Mohammed Faruq
00292515 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 99 Mohammed Faruq
00292516 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 42 Mohammed Faruq
00292517 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00296401 - - - F - - - - - - - ? Abnormal eye physiology (HP:0012373); Abnormal joint morphology (HP:0001367); Joint hypermobility (HP:0001382) 1 1 Andreas Laner
00299640 FamGC18203Pat1 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents F - - - - - - - retinal disease see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110 2 1 Johan den Dunnen
00304763 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00304764 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304765 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00304766 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00319389 - PubMed: Grond-Ginsbach et al., 2002 The variant was incorrectly described as an A>G substitution at position 801 of the legacy reference sequence when in fact the variant was at position 805. - - - white - - - - ? - 1 1 Raymond Dalgleish
00319390 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319391 P25 PubMed: Grelet et al., 2019 This patient was diagnosed with an unspecified progeroid syndrome, having a phenotype consistent with accelerated ageing without a specific nosological(disease) classification. Human splicing finder predicted a potential alteration of splicing for the variant in COL5A2. The patient also carried a variant in the SYNE2 gene.The technique used was the custom NGS Gene panel. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319392 - - - - - - white - - - - EDS, EDSHMB - 1 1 Ruwan Weerakkody
00319393 - PubMed: Ma et al., 2019 This variant was classified as benign according to bioinformatic analysis with SIFT and PolyPhen2. The variant was incorrectly described as c.587G > T in {PMID31694554:Ma et al., 2019}. - - - - - - - - ? Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319394 - PubMed: Watanabe et al., 2016 The technique used was the custom exome panel. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319395 - PubMed: Weerakkody et al., 2018 The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319396 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319397 - - - - - - - - - - - EDS, EDSCL1 - 1 1 Francesca Ponti
00319398 - PubMed: Symoens et al., 2012 mRNA analysis confirms skipping of exon 16. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319399 - PubMed: Symoens et al., 2012 mRNA analysis confirms skipping of exon 16. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319400 Family 26 PubMed: Baschal et al., 2018 The patient was diagnosed with idiopathic scoliosis.The technique used was whole exome sequencing. - - - - - - - - IS1 - 1 1 Raymond Dalgleish
00319401 - - - - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319402 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319403 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319404 - - The information in dbSNP is muddled. Care! - - - - - - - - ? - 1 1 Raymond Dalgleish
00319405 - PubMed: Symoens et al., 2012 The sequence variant at the final base of exon 21 interferes with splicing: mRNA analysis shows skipping of exon 21. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319406 - PubMed: Weerakkody et al., 2016 Classical EDS. Clear phenotype - markedly hyperextensible skin, generalised hypermobility (Beighton 8) including marked distal hypermobility, facies suggestive of Classical EDS, no critieria met for Vascular EDS. Collagen Proteins: normal proα1(III) pattern, LM: thickened elastic fibres. EM: irregular packing of collagen fibrils (no collagen rosettes). This patient has a disease-causing variant in COL3A1 but the intronic COL5A2 VUS is unlikely to disrupt splicing.This patient is also identified with ID 636. The technique used was the custom NGS Gene panel. - - - white - - - - EDS, EDSCL1 - 1 1 Ruwan Weerakkody
00319407 - PubMed: Grond-Ginsbach et al., 2002 The mutations were originally described as a T>C substitution at position 1683 and a C>T substitution at position 2646 each in NM_000393.2 counting from the start of the sequence.The same combination of variants was also found in an unrelated control individual, implying that these variants are probably not disease causing.The c.1535T>C variant is recorded in {dbSNP35852101}. - - - - - - - - ? Cervical artery dissection, 2 1 Raymond Dalgleish
00319408 - PubMed: Malfait et al., 2005 The author has confirmed that this variant was originally mistakenly described as c.1608+4T>C using NM_000393.2 as the reference sequence.This variant is mistakenly shown as being adjacent to exon 22 in Figure 3 in PubMed: Malfait and De Paepe, 2005. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319409 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319410 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319411 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319412 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319413 - - This is a sporadic case (de novo mutation verified). The splice site variant is predicted, in silico, to result in the alteration of the canonical splice acceptor site adjacent to exon 29. - - - - - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319414 - PubMed: Michalickova et al., 1998 This patient is also presented as proband C-II-I by PubMed: Segev et al., 2006. In both papers, the deletion is mistakenly described as being at the junction of intron 26 with exon 27 rather than at the junction of intron 28 with exon 29. - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319415 - 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
00319416 - PubMed: Symoens et al., 2012 mRNA analysis demonstrates skipping of exon 29. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319417 - PubMed: Chen et al., 2020 Although EDS is associated with low bone mineral density (BMD), this COL5A2 variant was found to be recurrent in a high BMD group. The technique used was the custom NGS Gene panel. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319418 - PubMed: Ritelli et al., 2013 This sporadic case presents with a severe phenotype (de novo mutation verified).The substitution at the last base of exon 29 results in the exon being skipped. - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319419 - PubMed: Michalickova et al., 1998 - - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319420 - - Hypermobility EDS / BJHS: EDS III Benign connective tissue phenotype with coronary artery dissections. - - - white - - - - EDS, EDSHMB - 1 1 Ruwan Weerakkody
00319421 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319422 - PubMed: Li et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - ? Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319423 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319424 - PubMed: Ritelli et al., 2013 This sporadic case presents with a severe phenotype (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319425 - - Daughter of affected individual AN_002560. - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319426 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319427 - PubMed: Fang et al., 2017 The variant is probably benign as the patient's grandson was also found to carry the variant but not display the phenotype. The technique used was the custom NGS Gene panel. - - - - - - - - ? Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319428 - - This variant is incorrectly described as c.2858_2859insG in dbSNP and the predicted amino acid substitution is wrong.In addition, the frameshift predicted by this variant would be expected to be pathogenic: a null allele.The dbSNP data concerning this variant need to be treated with caution. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319429 - - The dbSNP entry is rather muddled for this variant. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319430 - - mRNA analysis confirms skipping of exon 44. - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319431 - - This variant is incorrectly described as c.3050_3051insA in dbSNP and the predicted amino acid substitution is wrong.In addition, the frameshift predicted by this variant would be expected to be pathogenic: a null allele.The dbSNP data concerning this variant need to be treated with caution. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319432 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319433 - PubMed: Malfait et al., 2005 - - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319434 - PubMed: Weerakkody et al., 2018 The technique used was the custom NGS Gene panel. - - - - - - - - TAAD Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319435 - - This variant is incorrectly described as c.3345_3346insG in dbSNP and the predicted amino acid sequence outcome is wrong.In addition, the frameshift predicted by this variant would be expected to be pathogenic: a null allele.The dbSNP data concerning this variant need to be treated with caution. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319436 - PubMed: Fang et al., 2017 The patient was diagnosed with aortic aneurysm and rupture. The authors determined this to be a 'variant of unknown significance'. The technique used was the custom NGS Gene panel. - - - - - - - - ? Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319437 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319438 P4 PubMed: Mitchell et al., 2009 - - - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319439 II-2 PubMed: Richards et al., 1998 - - - - - - - - - EDS, EDSCL2 - 1 1 Raymond Dalgleish
00319440 - PubMed: Weerakkody et al., 2016 skin fragility, skin hyper-extensibility together with joint hypermobilityPatient ID 62. - - - white - - - - EDS, EDSCL1 - 1 1 Ruwan Weerakkody
00319441 - - This is a sporadic case (de novo mutation verified). - - Italy Italian - - - - EDS, EDSCL1 - 1 1 Marco Ritelli, Marina Colombi
00319442 - PubMed: Symoens et al., 2012 - - - - - - - - - EDS, EDSCL1 - 1 1 Sofie Symoens
00319443 - - Collagen biochemical analysis showed abnormal overmodification and intracellular retention of type V collagenThe technique used was the custom NGS Gene panel. - - Malaysia Malaysian - - - - EDS, EDSCL1 - 1 1 Cecilia Giunta
00319444 III-1 PubMed: Martin et al., 2006 The variant was only published with the amino acid changes as T1227S, using NM_000393.2. The DNA change was deduced, and the amino acid change been corrected to T1230S, with reference to NM_000393.4. - - - - - - - - ? Artery dissections, 1 1 Raymond Dalgleish
00319445 - PubMed: Grond-Ginsbach et al., 2002 This variant was originally mistakenly described as resulting in a Thr to Ser subsitution. The author has confirmed that it should be Thr to Arg.This mutation was previously described as c.3837C>GThe variant is recorded in {dbSNP62184175}. - - - - - - - - ? - 1 1 Raymond Dalgleish
00319446 - PubMed: Grond-Ginsbach et al., 2002 This mutation was originally described as an A>C substitution in NM_000393.2 at position 3838 counting from the start of the sequence.This variant is recorded in {dbSNP10197596}. - - - white - - - - ? - 1 1 Raymond Dalgleish
00319447 - PubMed: Grond-Ginsbach et al., 2002 This mutation was originally described as a T>C substitution in NM_000393.2 at position 3868 counting from the start of the sequence.This variant is recorded in {dbSNP10208525}. - - - white - - - - ? - 1 1 Raymond Dalgleish
00319448 - PubMed: Fang et al., 2017 The authors determined this to be a 'variant of uncertain significance'. The technique used was the custom NGS Gene panel. - - - - - - - - ? Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319449 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319450 - PubMed: Grond-Ginsbach et al., 2002 This mutation was originally described as a G>A substitution in NM_000393.2 at position 4388 counting from the start of the sequence.This variant is reported as being silent, but it actually results in a missense substitution. - - - white - - - - ? - 1 1 Raymond Dalgleish
00319451 Patient 16 PubMed: Grond-Ginsbach et al., 2002 This mutation was originally described as an A>T substitution in NM_000393.2 at position 4443 counting from the start of the sequence. - - - white - - - - ? - 1 1 Raymond Dalgleish
00319452 - PubMed: Malfait et al., 2005 The variant in this patient is described as leading to p.I1430fsx43 in the published account. F - - - - - - - EDS, EDSCL1 - 1 1 Raymond Dalgleish
00319453 - - It's not clear that the patient's COL5A2 variant is necessarily the cause of the EDS I phenotype. - - Philippines Filipino - - - - EDS, EDSCL1 - 1 1 Maria Ogtong Tynan
00319454 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00319455 Patient 10 PubMed: Ziganshin et al., 2015 The proband had aneurysm of the ascending aorta.The technique used was whole exome sequencing. - - - - - - - - TAAD Aortic aneurysms and/or dissection, 1 1 Raymond Dalgleish
00319456 - PubMed: Wang et al., 2018 The technique used was whole exome sequencing. - - - - - - - - ? Artery dissections, 1 1 Raymond Dalgleish
00319457 - PubMed: Grond-Ginsbach et al., 2002 This mutation was originally described as a G>A substitution in NM_000393.2 at position 4946 counting from the start of the sequence. - - - white - - - - ? - 1 1 Raymond Dalgleish
00327630 - - - - - - - - - - - EDSCL2 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00334823 AN_006346 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL2 - 1 1 Marlies Colman
00334824 AN_006347 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL2 - 1 1 Marlies Colman
00334825 AN_006348 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL1 - 1 1 Marlies Colman
00334827 AN_006349 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL2 - 1 1 Marlies Colman
00334829 AN_006350 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL2 - 1 1 Marlies Colman
00334830 AN_006351 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL2 - 1 1 Marlies Colman
00334832 AN_006352 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL2 - 1 1 Marlies Colman
00334834 AN_006353 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL2 - 1 1 Marlies Colman
00334835 AN_006354 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL1 - 1 1 Marlies Colman
00334838 AN_006355 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL1 - 1 1 Marlies Colman
00334840 AN_006356 PubMed: Colman 2021, Journal: Colman 2021 - - - Belgium - - - - - EDSCL1 Bilateral hip dislocation, progressive scoliosis 1 1 Marlies Colman
00402811 - - - - - - - - - - - EDS - 1 1 Anna Junkiert-Czarnecka
00417028 - - - - - Italy - - - - - ? - 1 1 Lucia Micale
00417038 - - - - - Italy - - - - - ? - 1 1 Lucia Micale
00417039 - - - - - Italy - - - - - ? - 1 1 Lucia Micale
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