All individuals with variants in gene TGFB2

32 entries on 1 page. Showing entries 1 - 32.
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00002976 FamPatII2 3-generation family, 5 affected (5M) - M no Germany white - - - - LDS4 aortic artery aneurysm, arterial tortuosity, scoliosis, foot deformity, retrognathia, hernia; aortic repair 1 5 Georg Rosenberger
00004126 - - Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder - - Germany - - - - - ? - 1 1 Georg Rosenberger
00004127 - - Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder - - Germany - - - - - ? - 1 1 Georg Rosenberger
00081071 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - LDS4 Loeys-Dietz syndrome 4 (OMIM:614816) 1 1 Daniel Trujillano
00286187 - - - - - - - - - - - LDS4 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00289718 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00289719 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295360 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00305552 Individual 38 PubMed: Vissers 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD birth 40w, weight 2948 (normal), OFC (<-2.0 SD); height 161 (<-3.0 SD), weight 49.4 (normal), OFC 49.7 (<-3.0 SD); moderate intellectual disability; developmental delay; no motor delay; speech delay; no dysarthria; 2y-epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Aortic root dilation, on losartan: NA; no dysphagia/feeding difficulties: NA: Scoliosis; no hearing abnormalities; Myopia: NA; Dystonia; MRI-brain no holoprosencephaly, Chiari 1 malformation, microcephaly 1 1 Johan den Dunnen
00390427 G001037 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00398111 Pat49 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398112 Pat50 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398113 Pat51 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398114 Pat52 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398125 Pat64 PubMed: Overwater 2018 - M - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398309 patient PubMed: Fontana 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - ? see paper; ..., feeding difficulties, hypotonia, congenital hip dysplasia 1 1 Johan den Dunnen
00398333 Fam1PatIII3 PubMed: Schubert 2016 3-generation family, affected father/son M - United States - - - - - LDS see paper; ..., borderline TAA 1 2 Johan den Dunnen
00398344 Pat1 PubMed: Renard 2013 - F - Belgium - - - - - TAAD aorta type A dissection, normal mitral valve; flat feet, hallux valgus; mother died in childbirth, 41y-sister died from dissection 1 1 Johan den Dunnen
00398345 Pat2 PubMed: Renard 2013 - M - Belgium - - - - - TAAD thoracic aortic aneurysm (43 mm z 2.7), mitral valve prolapse, mitral valve replacement; clubfeet, joint laxity, mild pectus carinatum;h igh arched palate; varicose veins; myopia 1 1 Johan den Dunnen
00398346 Pat3 PubMed: Renard 2013 - F - Belgium - - - - - TAAD thoracic aortic aneurysm (40 mm z 5.2), mitral valve prolapse, mild mitral valve regurgitation; joint laxity as child; high palate, retrognatia; local translucency skin; myopia, astigmatism, cataract; recurrent strokes, corckscrew vertebral artery; daughter Marfanoid 1 1 Johan den Dunnen
00398347 Pat4 PubMed: Renard 2013 - M - Belgium - - - - - TAAD thoracic aortic aneurysm (40 mm z 3.4), mitral valve prolapse; joint laxity; myopia, strabismus; 1 1 Johan den Dunnen
00398348 Pat5 PubMed: Renard 2013 - M - Belgium - - - - - TAAD (41 m z 3.5), trivial mitral valve regurgitation; arachnodactyly, camptodactyly, kyphoscoliosis; hypertelorism, downslanting palpebral fissures, malar hypoplasia, high palate, retrognatia; skin atrophic scarring; daughter spontaneous pneumothorax, 43y-father sudden death 1 1 Johan den Dunnen
00398349 Pat6 PubMed: Renard 2013 - M - Belgium - - - - - TAAD aorta type A dissection (<50 mm), mitral valve prolapse, mitral valve replacement; pectus carinatum, arachnodactyly, joint hypermobility; striae skin 1 1 Johan den Dunnen
00418566 PatXXVII PubMed: Almpani 2022 proband - - United States - - - - - LDS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418567 FamPatXXVIIIA PubMed: Almpani 2022 family, proband - - United States - - - - - LDS see paper (extensive phenotyping) 1 3 Johan den Dunnen
00418568 FamPatXXVIIIB PubMed: Almpani 2022 offspring - - United States - - - - - LDS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418569 FamPatXXVIIIC PubMed: Almpani 2022 offspring - - United States - - - - - LDS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418570 FamPatXXIXA PubMed: Almpani 2022 family, father - - United States - - - - - LDS see paper (extensive phenotyping) 1 3 Johan den Dunnen
00418571 FamPatXXIXB PubMed: Almpani 2022 sibling - - United States - - - - - LDS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00418572 FamPatXXIXC PubMed: Almpani 2022 offspring - - United States - - - - - LDS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00419624 9058 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00460910 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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