All individuals with variants in gene LARGE

61 entries on 1 page. Showing entries 1 - 61.
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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) 1 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) 1 1 Yu Sun
00054665 - PubMed: O'Grady 2016 - F - Australia - >19y 0 - - MDC gross motor delay, walked age 6y with support, moderate cognitive delay, leukodystrophy; CPK elevated (5000-7000); IHC alphaDG; histology dystrophic 1 1 Sandra Cooper
00054683 Pat98 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >09y 0 - - MDC infantile hypotonia, gross motor delay, MRI - white matter abnormalities; CPK elevated); IHC alphaDG; histology dystrophic 2 1 Sandra Cooper
00152609 - PubMed: Longman 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) British - 0 - - MDC developmental delay, hypotonia, mirror movements upper limbs, maximal motor function 9y (walk 200 yards, jump) since then gradual deterioration mobility; CPK 467-4500; intellectual disability; sit 2.5y, walk 4.5y 2 1 Johan den Dunnen
00152610 - PubMed: van Reeuwijk 2007 unaffected carrier parents second degree cousins; brother of 17436019.1 M - Saudi Arabia - - 0 - - WWS phenotype see paper; CPK 180x 1 1 Johan den Dunnen
00152611 - PubMed: van Reeuwijk 2007 unaffected carrier parents second degree cousins; sister of 17436019.2 F - Saudi Arabia - - 0 - - WWS phenotype see paper; CPK 10-286x 1 1 Johan den Dunnen
00152612 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152613 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152614 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152615 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152616 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152617 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152618 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152619 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152620 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152621 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152622 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152623 - PubMed: Godfrey 2007 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00152624 - PubMed: Clement - - - - - - 0 - - WWS contractures, retinal detachmenty, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, lissencephaly, feeding difficulties, RIP 8w; ?microcephaly; CPK 5700; intellectual disability; no motor milestones 2 1 Johan den Dunnen
00152625 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152626 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152627 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152628 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152629 - PubMed: Godfrey 2007 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00152630 - L Medne ASHG 2010 A1669 - - - - - - 0 - - MDC MRI brain white matter chanes, cortical migrational abnormalities 2 1 Johan den Dunnen
00152631 - PubMed: Clement - - - - - >14y 0 - - MDC no microcephaly, nystagmus, abnormal ERG; CPK 4500; intellectual disability 2 1 Johan den Dunnen
00152632 - PubMed: Clement - - - - - >1y 0 - - MEB no microcephaly, myopia; CPK 400; intellectual disability 2 1 Johan den Dunnen
00152633 - PubMed: Mercuri 2009 - - - - - - 0 - - WWS no microcephaly, no epilepsy, MRI WWS-type, ?eye involvement; CPK 10x; intellectual disability; head control 1 1 Johan den Dunnen
00152634 - PubMed: Clarke 2011 unaffected carrier first-cousin parents; sister of 21248746-Pat2 F yes Lebanon - - 0 - - MDC delayed motor milestones; CPK 30x; intellectual disability (IQ 61); sit 9m, stood 2.5y, stairs 8y, never run 1 1 Johan den Dunnen
00152635 - PubMed: Clarke 2011 unaffected carrier first-cousin parents; sister of 21248746-Pat1 F yes Lebanon - - 0 - - MDC generalised hypotonia, mild myopia; CPK 60x; stood 16m, walk 2y 1 1 Johan den Dunnen
00152636 - PubMed: Vuillaumier-Barrot 2011 - - no - - - 0 - - LIS 22w pregnancy termination because of reoccurrence severe quadriventricular hydrocephalus/cerebellar hypoplasia (like fetus F1); fetus dysmorphic features, horizontal narrow palpebral slit, bulging eyes, hypertrichosis cheeks/shoulders 2 1 Johan den Dunnen
00152637 - PubMed: Vuillaumier-Barrot 2011 - - no - - - 0 - - LIS fetus triventricular hydrocephalus, no encephalocele, no retinal dysplasia, no other visceral abnormalities 2 1 Johan den Dunnen
00152642 - - no causative LARGE mutations found M - - - - 0 - - MDC - 1 1 Tom Winder
00152643 - - - - - - - - 0 - - LGMD - 1 1 Tom Winder
00152644 - - - F - United States - - 0 - - MDC - 2 1 Tom Winder
00152645 - - - - - United States - - 0 - - ? - 1 1 Tom Winder
00152646 - - - - - United States - - 0 - - WWS - 1 1 Tom Winder
00152647 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152648 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152649 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152650 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152651 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152652 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152653 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152654 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152655 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152656 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152657 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152658 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152659 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152660 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152661 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152689 19299310-Pat43 PubMed: Mercuri 2009 - - - Italy - - 0 - - MDC see paper; … 1 1 Johan den Dunnen
00207901 242 PubMed: Vadgama 2019, Journal: Vadgama 2019 242: proband diagnosed with ALS 243: unaffected MZ twin M - - - - 0 - - ALS - 1 1 Nirmal Vadgama
00265901 PatD1 PubMed: Cummings 2017 - - - - - - 0 - - MD - 2 1 Johan den Dunnen
00293102 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 114 Mohammed Faruq
00293103 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00304901 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304902 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00361607 11DG1643 PubMed: Anazi 2017 familial M yes Saudi Arabia - - 0 - - ID syndromic; global developmental delay, severe hydocephalus, eye involvement and high CPK 1 1 Johan den Dunnen
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