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. Author manuscript; available in PMC: 2022 Feb 1.
Published in final edited form as: Acta Neuropathol. 2020 Nov 23;141(2):139–158. doi: 10.1007/s00401-020-02244-5

Table 1.

Schematic presentation of the 10q25.2-q26.3 region and gene positioning from top to bottom, with clinical features.

Genes of interest on Chromosome 10 (q26.1-26.3)
Genes Functions References
PAX2 Chronic kidney diseases Deng et al; 2019. Ref.50
EMX2 Transcription Factor Cecchi et al; 2002. Ref.31
GLRX3 Vesicoureteric reflux Darlow et al; 2017. Ref.41
EBF3 Facial dysmorphisms; ID candidate Lopes et al; 2017. Ref.131
MGMT Glioblastomas biomarkers Jovcevska; 2019. Ref.105
MDR1 Amplified in glioblastomas Suzuki et al; 2004. Ref. 193
ADAM12 Cancer; arthritis; cardiac hypertrophy Ray et al; 2011. Ref.177
DOCK1 Cranio facial dysmorphism; ID candidate Yatsenko et al; 2009. Ref.221
TXNL2 Breast, colorectal cancers Qu et al; 2011. Ref.167
FGFR2 Microcephaly; ID candidate Sangu et al; 2016. Ref.185
PTPRE Obesity-induced disease development Kogelman et al; 2016 Ref.112
MK167 Cancer risk factor Joensuu et al; 2004 Ref.104
TCERG1 Apoptotic agent; spliceosome Montes et al; 2015 Ref.148
BNIP3 Mitophagy; cancer Panigrahi et al; 2019 Ref.159
JAKMIP3 Candidate for COPD Mostafaei et al; 2018 Ref.150
DPYSL4/CRMP3 Dendrite maintenance; AD, ID candidate Quach et al; 2020 Ref.174
LRRC27 Intra-ocular pressure; glaucoma Woo Kim et al; 2020 Ref.216
PWWP2B Histone modifications regulation Zhang et al; 2018 Ref.225
NKX6-2 Hypomyelination; spastic ataxia Chelban et al; 2020 Ref.27
GPR123 Candidate gene for asthma Tremblay et al; 2008 Ref. 200
VENTX Putative tumor suppressor Gao et al; 2016 Ref.67
MIR202 Reduced pancreatic tumor Mody et al; 2017 Ref.146
ADAM8 Neuro-inflammation; asthma Knolle et al; 2009 Ref.111
TUBGCP2 Neuronal migration defect Mitani et al; 2019 Ref.145
CALY Attention deficit hyperactivity disorders Plaisancie et al; 2014 Ref.163
PRAP Developmental regulation during pregnancy Duan et al; 1997 Ref. 57
ECHS1 Deafness; epilepsy; optic atrophy Haack et al; 2015 Ref.81
MTG1 Cardiac hypertrophy; mitochondrial function Xu et al; 2019 Ref.219
SPRN Influence in TSE susceptibility Lampo et al; 2007 Ref.118
CYP2E1 Alcohol abuse/immune interactions Ratna et al; 2017 Ref.176
FRG2B Neuro-endocrine tumors Snezhkina et al; 2019 Ref.190
UTF Germ cell lineage development Kasowitz et al; 2017 Ref.109
PAOX Over-expressed in myelofibrosis Salati et al; 2016 Ref.183
SYCE Non-obstructive azoospermia Maor-Sagie et al; 2015 Ref.134
PPP2R2 Mitochondrial fragmentation; autophagy Fang et al; 2013 Ref. 62
DRD1IP Attention deficit/hyperactivity disorders Laurin et al; 2007 Ref.121