Cardiovascular
Product NameApplicationRegion
P065-Marfan Syndrome-1CE;IL Marfan syndrome; other FBN1-related disorders; other TGFBR2-related disorders FBN1 15q21.1; TGFBR2 3p24.1
P066-Marfan Syndrome-2CE;MA;IL Marfan syndrome; other FBN1-related disorders FBN1 15q21.1
P093-HHT/HPAHCE Hemorrhagic telangiectasia, hereditary (HHT); Heritable pulmonary arterial hypertension (HPAH) ENG 9q34.11; ACVRL1 12q13.3; BMPR2 2q33.1-q33.2
P100-MYBPC3 Hypertrophic cardiomyopathy, familial MYBPC3 11p11.2
P108-SCN5A Brugada / long QT SCN5A 3p22
P114-Long-QT Congenital long QT syndrome (LQT) KCNQ1 11p15.5, KCNH2 7q35, KCNE1 & KCNE2 21q12
P130-CCM mix-1 Cerebral cavernous malformations (CCM) KRIT1 7q21.2; CCM2 7p13
P131-CCM mix-2 Cerebral cavernous malformations (CCM) KRIT1 7q21.2; PDCD10 3q26.1
P148-TGFBR1-TGFBR2 Aortic aneurysm syndrome TGFBR1 9q22, TGFBR2 3p24
P168-ARVC-PKP2 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) DSP 6p24, PKP2 12q11.21
P180-Limb-2 Townes-Brocks syndrome (TBS); Duane-radial ray syndrome (DRRS); Holt-Oram syndrome, SALL4-related; Acro-renal-ocular syndrome (AROS); Holt-Oram syndrome (HOS) SALL1 16q12.1; SALL4 20q13.2; TBX5 12q24.21
P184-JAG1 Alagille syndrome (ALGS) JAG1 20p12.2
P196-TNNT2-BAG3 Hypertrophic cardiomyopathy, familial; Dilated cardiomyopathy TNNT2 1q32.1; BAG3 10q26.11
P234-GATA3 - GATA4 Ventricular septal defect-1 (VSD1); Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome GATA4 8p23.1; GATA3 10p14
P311-CHD Congenital Heart Disease (CHD) GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25
P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3
P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300 22q13.2
P350-CLCN1-KCNJ2 Myotonia congenita; Thomsen disease; Becker disease; Andersen-Tawil syndrome CLCN1 7q34; KCNJ2 17q24.3
P409-RASA1-EPHB4 Capillary malformations; Parkes Weber syndrome RASA1 5q14.3; EPHB4 7q22.1
P418-MYH7 Hypertrophic cardiomyopathy MYH7 14q11.2
P434-Heterotaxy Heterotaxy syndrome ZIC3 Xq26.3, CFC1 2q21.1, ACVR2B 3p22.2, NODAL 10q22.1
P456-EVC EVC2 Ellis-van Creveld syndrome EVC 4p16.2; EVC2 4p16.2
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