All individuals with variants in gene COL4A6

38 entries on 1 page. Showing entries 1 - 38.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 27 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 28 1 Yu Sun
00091669 19377216-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 23 Lucy Raymond
00091670 19377217-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00091671 19377218-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 35 Lucy Raymond
00091672 19377219-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00091673 19377220-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 4 Lucy Raymond
00091674 19377221-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 9 Lucy Raymond
00091675 19377222-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00091676 19377223-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation - - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00092721 - Thielen (2003) Hum Mutat Online, #662 - M - United Kingdom (Great Britain) - - 0 - - AS - 1 1 Judy Savige
00092722 - PubMed: Plant 1999 - M - China - - 0 - - AS 22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal 1 1 Judy Savige
00092723 - PubMed: Thielen 2003 AS & DL F - United Kingdom (Great Britain) - - 0 - - AS no hearing loss; no ocular phenotype; glomerulus abnormal 1 1 Judy Savige
00092724 - PubMed: Thielen 2003 AS & DL - - United Kingdom (Great Britain) - - 0 - - AS - 1 1 Judy Savige
00092725 - PubMed: Mothes 2002 4-generation family, 7 affecteds F;M - - Caucasian - 0 - - AS hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; no renal failure 1 7 Judy Savige
00092850 - PubMed: Wang 2002 - - - China - - 0 - - AS hearing loss; no ocular phenotype; glomerulus abnormal 1 1 Judy Savige
00092852 - PubMed: Renieri 1994 - M - Italy - - 0 - - AS 17y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal 1 1 Judy Savige
00093038 - PubMed: Hoischen 2009 - F - Germany - - 0 - - AS hearing loss; no ocular phenotype; glomerulus abnormal 1 1 Judy Savige
00093370 - PubMed: Oohashi 2011 AS & DL F - - - - 0 - - AS - 1 1 Judy Savige
00093446 - PubMed: Uliana 2011 - F - - - - 0 - - AS micro and macrohaematuria, proteinuria, normal serum creatinine. Esophageal leiomyomatosis. Mother had microhaematuria, intermitenet proteinuria, gross hematuris episodes from childhood, esophageal achalasia at 22y, uterine leiomyomatosis.; no hearing loss; no ocular phenotype; glomerulus abnormal 1 1 Judy Savige
00093447 - PubMed: Uliana 2011 - M - - - - 0 - - AS esophageal achalasia at 3y, microhaematuria at 4 y Progressive sensorineural hearing loss since 6y, hearing aids at 11y Diffuse esophageal leiomyomatosis at 9y Microhaematuria, proteinuria and moderately elevated creatinine levels at 19y No family history.; hearing loss 1 1 Judy Savige
00093448 - PubMed: Uliana 2011 - M - - - - 0 - - AS bilateral cataract and progressive hearing loss. Hearing aids at 11y Dysphagia since childhood. Eosophageal leiomyoma, microhaematuria and proteinuria at 14y GBM pathology at 32y, also absent ?3(IV) and ?5(IV) expression and normal ?1(IV) expression. Normal renal function at 33y Sister diagnosed with Hirschprung disease. Mother had achalasia at 9y, and uterine leiomyomas.; hearing loss; ocular changes; glomerulus abnormal 1 1 Judy Savige
00093455 - PubMed: Nozu 2008, PubMed: Nozu 20093 - F - Japan - - 0 - - ASXL haematuria and proteinuria at 3y, GBM abnormalities at 7, heavy proteinuria and hypoalbuminemia, and normal renal function. ; no ocular phenotype; glomerulus normal 1 1 Judy Savige
00093458 - PubMed: Zhang 2012 - - - China - - 0 - - ASXL - 1 1 Judy Savige
00093462 - Heidet - - - - - - 0 - - AS - 1 1 Judy Savige
00093977 23958657-Fam3PatIII1 PubMed: Sa 2013 2-generation family, affected mother/son F - Portugal - - 0 - - ASXL 46y renal failure; hearing loss; no ocular phenotype; renal failure 1 2 Maria João Nabais Sá
00152665 - - - F no Czech Republic - 01y 0 - - AS microscopic hematuria, leiomyomatosis of the eosophagus, billateral cataract 1 1 Pavlina Plevova
00153458 - - - F - United Kingdom (Great Britain) - - 0 - - ASAR - 1 1 Judy Savige
00153535 - - - M - United Kingdom (Great Britain) - - 0 - - ASAR - 1 1 Judy Savige
00153670 - - - F - United Kingdom (Great Britain) - - 0 - - ASAR - 1 1 Judy Savige
00153988 - PubMed: Nozu 2017, Journal: Nozu 2017 - - - Japan - - 0 - - AS - 1 1 Judy Savige
00153989 - PubMed: Nozu 2017, Journal: Nozu 2017 - - - Japan - - 0 - - AS - 1 1 Judy Savige
00153990 - PubMed: Nozu 2017, Journal: Nozu 2017 - - - Japan - - 0 - - AS - 1 1 Judy Savige
00153991 - PubMed: Nozu 2017, Journal: Nozu 2017 - - - Japan - - 0 - - AS - 1 1 Judy Savige
00153992 - PubMed: Nozu 2017, Journal: Nozu 2017 - - - Japan - - 0 - - AS - 1 1 Judy Savige
00153993 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - 0 - - ASAR hematuria (HP:0000790) 1 1 Judy Savige
00153994 - PubMed: Liu 2015, Journal: Liu 2015 15y-haematuria, proteinuria. Mutation in another collagen gene too - COL6A3:c.2782C >T, p.R928C. Affected mother had only a mild case of diffuse oesphageal leiomyomatosis. M - China Chinese - 0 - - AS no hearing loss (-HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) 1 1 Judy Savige
00154292 - - - F - - Okinawan, Caucasian, Japanese, Chinese, Filipino - 0 - - ASAR - 1 1 Judy Savige
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