All individuals with variants in gene COL6A2

587 entries on 6 pages. Showing entries 1 - 100.
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00054695 Pat26 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected non-carrier parents F - Australia - >21y 0 - - MDC never walked, contractures, distal laxity; CPK normal; IHC COLVI; histology non-specific 1 1 Shireen Lamandé
00054699 Pat68 PubMed: O'Grady 2016 - F - Australia - >18y 0 - - MDC infantile hypotonia, congenital hip dislocation, gross motor delay, mild facial weakness, distal laxity, scoliosis, hyperkeratosis pilaris, long finger flexor contractures; CPK normal; IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054700 Pat69 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >12y 0 - - MDC infantile hypotonia, arthrogryposis, congenital femur fracture and hip dislocation, gross motor delay, walked age 2 years, mild facial weakness, contractures, distal laxity, hyperkeratosis pilaris, restrictive lung disease ; CPK mild elevation (378); IHC COLVI; histology dystrophic 2 1 Shireen Lamandé
00054703 Pat90 PubMed: O'Grady 2016 - M - Australia - >22y 0 - - MDC generalised weakness, mild facial weakness, hypermobility and distal laxity, contractures, hyperkeratosis pilaris; CPK mild elevation (375-603); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054705 Pat100 PubMed: O'Grady 2016 - M - Australia - >9y 0 - - MDC infantile hypotonia and weakness, gross motor delay, walked age 20mo, mild facial weakness, distal laxity, contractures, hyperkeratosis pilaris, finger flexor contractures; CPK mild elevation (419); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054706 Pat101 PubMed: O'Grady 2016 - F - Australia - >14y 0 - - MDC infantile hypotonia, congenital hip dislocation, talipes equinovarus, proximal weakness, hypermobility, distal laxity, mild scoliosis, hyperkeratosis pilaris; CPK mild elevation (343-405); IHC COLVI; histology dystrophic 2 1 Shireen Lamandé
00080893 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - UCMD-1 Ullrich congenital muscular dystrophy 1 (OMIM:254090) 1 1 Daniel Trujillano
00081094 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - UCMD-1 Ullrich congenital muscular dystrophy 1 (OMIM:254090) 1 1 Daniel Trujillano
00103084 MYO-SEQ Pat2 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 2 1 Alison Blain
00104005 Vogelaar-135A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00108709 MYO-SEQ Pat10 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108710 MYO-SEQ Pat11 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108711 MYO-SEQ Pat12 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108712 MYO-SEQ Pat13 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 3 1 Alison Blain
00108713 MYO-SEQ Pat14 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 2 1 Alison Blain
00108714 MYO-SEQ Pat15 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108715 MYO-SEQ Pat16 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108721 MYO-SEQ Pat21 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108724 MYO-SEQ Pat24 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108727 MYO-SEQ Pat27 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108728 MYO-SEQ Pat28 MYO-SEQ project, UK 2-generation family, affected mother/daughter F no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 2 Alison Blain
00108729 MYO-SEQ Pat29 MYO-SEQ project, UK - F yes United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 2 Alison Blain
00108730 MYO-SEQ Pat3 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108731 MYO-SEQ Pat30 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 2 1 Alison Blain
00108741 MYO-SEQ Pat7 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 2 1 Alison Blain
00108743 MYO-SEQ Pat9 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - BTHLM-1 - 1 1 Alison Blain
00108757 P2 PubMed: Giusti 2005 - - - Turkey - - 0 - - UCMD - 4 1 Anne Lampe
00108770 Pat45 PubMed: Lampe 2005 - - - - - - 0 - - UCMD mild 1 1 Johan den Dunnen
00108772 P4 PubMed: Giusti 2005 - - - Italy - - 0 - - UCMD mild 9 1 Anne Lampe
00108773 P1 PubMed: Giusti 2005 - - yes Turkey - - 0 - - UCMD - 1 1 Anne Lampe
00108775 P5 PubMed: Giusti 2005 - - - Belgium - - 0 - - UCMD mild 5 1 Anne Lampe
00108780 - PubMed: Lucarini 2005, OMIM:var0007 mother heterozygous - - - - - 0 - - UCMD - 2 1 Anne Lampe
00108781 - PubMed: Camacho 2001, OMIM:var0002 - - - - - - 0 - - UCMD - 2 1 Johan den Dunnen
00108782 - PubMed: Ishikawa 2002 - - - - - - 0 - - UCMD - 2 1 Johan den Dunnen
00108783 - PubMed: Camacho 2001, OMIM:var0004 2 brothers - - Italy - - 0 - - UCMD - 2 2 Johan den Dunnen
00108784 - PubMed: Higuchi 2001, OMIM:var0006 - - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108786 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108787 - PubMed: Ishikawa 2004 - - - - - - 0 - - UCMD mild 2 1 Johan den Dunnen
00108788 - PubMed: Camacho 2001, OMIM:var0003 - - - Italy - - 0 - - UCMD - 2 1 Johan den Dunnen
00108789 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 change in 1/78 individuals 1 1 Johan den Dunnen
00108790 - PubMed: Scacheri 2002, OMIM:var0005 large 3 generation family, 9 affecteds - - United States Caucasian - 0 - - LGMD-1 LGMD-AD 1 9 Johan den Dunnen
00108791 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108792 ? PubMed: Lampe 2005 3 first degree relatives - - - - - 0 - - BTHLM-1 1/3 severe 1 3 Johan den Dunnen
00108793 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 2 1 Johan den Dunnen
00108794 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108795 Pat47 PubMed: Lampe 2005 - - - - - - 0 - - UCMD mild 1 1 Johan den Dunnen
00108796 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 2 1 Johan den Dunnen
00108797 - PubMed: Baker 2005 - - - - - - 0 - - UCMD - 2 1 Johan den Dunnen
00108798 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108799 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 2 1 Johan den Dunnen
00108800 ? PubMed: Lampe 2005 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108801 15563506.b PubMed: Baker 2005 child of 15563506.a - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108802 - PubMed: Jobsis 1996 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108803 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108804 ? PubMed: Lampe 2005 - - - - - - 0 - - UCMD - 1 1 Johan den Dunnen
00108823 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - 8 1 Johan den Dunnen
00108824 ? PubMed: Baker 2007 - M - United States - - 0 - - BTHLM-1 CPK normal 8 1 Johan den Dunnen
00108825 ? PubMed: Baker 2007 - M - United States - - 0 - - BTHLM-1 CPK increased 10 1 Johan den Dunnen
00108826 ? PubMed: Baker 2007 - F - Australia - - 0 - - BTHLM-1 CPK increased 8 1 Johan den Dunnen
00108827 ? PubMed: Baker 2007 - M - New Zealand - - 0 - - BTHLM-1 CPK normal 10 1 Johan den Dunnen
00108828 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - 8 1 Johan den Dunnen
00108829 ? PubMed: Baker 2007 - M - United Kingdom (Great Britain) - - 0 - - BTHLM-1 CPK normal 7 1 Johan den Dunnen
00108830 ? PubMed: Baker 2007 - M - Australia - - 0 - - BTHLM-1 - 10 1 Johan den Dunnen
00108840 ? PubMed: Jobsis 1996 - - - - - - 0 - - BTHLM-1 - 1 1 Johan den Dunnen
00108841 ? PubMed: Baker 2007 - M - United States - - 0 - - UCMD CPK normal 1 1 Johan den Dunnen
00108842 ? PubMed: Baker 2007 - M - Australia - - 0 - - UCMD - 1 1 Johan den Dunnen
00108848 15563506.a PubMed: Baker 2005 mother of 15563506.b - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00108850 ? - - M - (United States) - - 0 - - BTHLM-1 - 1 1 Tom Winder
00108851 ? - - - - (United States) - - 0 - - UCMD - 2 1 Tom Winder
00108856 ? - - M - (United States) - - 0 - - UCMD - 1 1 Tom Winder
00108857 ? - - M - (United States) - - 0 - - UCMD - 1 1 Tom Winder
00108859 ? - - - - (United States) - - 0 - - ? Bethlem myopathy; Ullrich congenital muscular dystrophy 1 1 Tom Winder
00108862 ? - - - - United States - - 0 - - BTHLM-1 - 2 1 Tom Winder
00108868 ? - - - - United States - - 0 - - UCMD - 2 1 Tom Winder
00108875 ? - - M - United States - - 0 - - UCMD - 1 1 Tom Winder
00108877 ? L Medne ASHG 2010 A1669 - ? - ? (unknown) - - 0 - - UCMD MRI-brain white matter lesions (numerous patchy); delayed motor skills; roll-6m, sit-12m, c-12m, walk-4y3m 2 1 Johan den Dunnen
00108878 ? CA Valencia ASHG 2010 A1982 - ? - (United States) - - 0 - - ? - 1 1 Johan den Dunnen
00108886 ? - - F - United States - - 0 - - ? collagenopathy, type VI 1 1 Tom Winder
00108887 ? - - M - United States - - 0 - - ? type VI collagenopathy 1 1 Tom Winder
00108891 ? - - F - United States - - 0 - - ? type VI collagenopathy 2 1 Tom Winder
00108892 ? - - F - Saudi Arabia Arab - 0 - - UCMD - 1 1 Tom Winder
00108895 ? - unaffected carrier parents M - United States Hispanic - 0 - - ? collagenopathy, type VI 2 2 Tom Winder
00108896 ? - - M ? Saudi Arabia Arab - 0 - - UCMD - 2 1 Tom Winder
00108897 ? - - F - United States - - 0 - - UCMD - 2 1 Tom Winder
00108900 ? - - F - Saudi Arabia Arab - 0 - - UCMD - 2 1 Tom Winder
00108901 ? - - F - United States Caucasian - 0 - - ? collagenopathy, type VI; gross motor delays, proximal weakness, elbow contractures, hyperextensible fingers 2 1 Tom Winder
00108902 ? - - M - United States - - 0 - - ? collagenopathy, type VI 1 1 Tom Winder
00108908 ? - - M - Saudi Arabia Arab - 0 - - UCMD - 2 1 Tom Winder
00109013 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109014 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109015 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109016 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109017 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109018 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109019 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109020 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109021 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109022 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109023 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00109024 ? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
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