Skip to main content

Advertisement

Table 3 Variants which changed from non-pathogenic or VOUS to a variant with clinical significance on reanalysis

From: CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study

MGL-BCM reported n Year of release Evidence Reference
GAIN of chromosome band 3p26.3 spanning approximately 0.808 Mb in a non-disease-associated region 1 2015 Duplication of the CNTN6 gene is associated with a wide spectrum of neurodevelopmental behavioral disorders • Hu et al. (2015). Journal of Neurodevelopmental Disorders 7:26
• Chunyang (2016). Mol Cytogenet 9; 51
• Mercati et al. (2017). Molecular Psychiatry 22:625–33
GAIN of chromosome band 8q11.23 spanning approximately 0.649 Mb in a non-disease-associated region 2 2015 Duplications in RB1CC1 as a risk factor for schizophrenia • Degenhardt (2013). Translational Psychiatry 3(11):e326
LOSS of chromosome band 8p11.21 spanning approximately 0.002 Mb in a non-disease-associated region. 1 2014 CHRNB3 mediates fast signal transmission at synapses, and may therefore be associated with psychomotor developmental delay • Miya (2012). Gene 506(1):146–9
LOSS of chromosome band 3p21.1 spanning approximately 0.0052 Mb in a non-disease-associated region. 1 2011 The existence of a tumor-suppressor gene that plays a critical role in the development and progression in various solid malignancies • Li (2013). PLoS ONE 8(4):e60027
• Lovrecic (2016). Mol Syndromol. 7(2): 93–98
LOSS within chromosome band 20p12.1 spanning approximately 0.007 Mb in a non-disease-associated region. 1 2015 It has been reported that this macrodomain (MACROD2) is expressed in the ventricular zone of the brain, and is associated with several neurologic and psychiatric disorders • Frye (2016). N A J Med Sci. 9(1):35–37
LOSS of chromosome bands 2q24.2q24.3 spanning approximately 1.054 Mb in a non-disese-associated region. 2 2011 KCNH7 contributes to benign familial neonatal seizures • Okumura (2011) Epilepsia 52(7):e66–e69
• Belengeanu V (2014) Gene 539(1):168–172, 2014.