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. 2020 Nov 24;42(5):1304–1312. doi: 10.1002/hbm.25294

TABLE 2.

The concordance with previous results

Super‐variant Gene Papers Results
Chr3‐151 SELENOT Boukhzar et al., 2016 Gene SELENOT encodes a selenoprotein. This gene has been reported to play a crucial role in the protection of dopaminergic neurons against oxidative stress in mouse model of Parkinson's disease.
MED12L

Risheg et al., 2007

Isidor et al., 2014

Nizon et al., 2019

Gene MED12L encodes a subunit of Mediator complex. Mutations in this gene have been identified in several genetic disorders associated with intellectual disabilities.
Chr7‐139 KIAA1549

Jones et al., 2008

Lin et al., 2012

KIAA1549:BRAF fusion has been identified in many cases of pilocytic astrocytoma in central neural system.

Chr9‐120 ASTN2 Fagerberg et al., 2014

Gene ASTN2 shows biased expression in brain.

Wilson, Fryer, Fang, & Hatten, 2010 Gene ASTN2 has been reported to regulate glial‐guided neuronal migration.

Glessner et al., 2009

Vrijenhoek et al., 2008

Lesch et al., 2008

Variations in gene ASTN2 has been identified as a risk factor in neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, attention‐deficit/hyperactivity disorder.
Chr12‐34 SYT10 Moghadam & Jackson, 2013 Gene SYT10 is a member of synaptotagmin, a family of transmembrane proteins involved in the regulated exocytosis of vesicles.

Mittelsteadt et al., 2009

Gene SYT10 is mainly expressed in olfactory bulb neurons.
Woitecki et al., 2016 Gene SYT10 has been reported to contribute to activity‐induced neuroprotection against excitotoxic neurodegeneration.
Chr15‐65 CSNK1G1 Martin et al., 2014 Gene CSNK1G1 encodes a member of the casein kinase I gene family. A mutation in this gene may be associated with non‐syndromic early‐onset epilepsy.
Chr18‐71 CBLN2 Fagerberg et al., 2014 Gene CBLN2 shows biased expression in brain.
Rong et al., 2012 Genetic elimination of CBLN2 results in synaptic alterations in cerebellum.
NETO1

Fagerberg et al., 2014

Gene NETO1 encodes a transmembrane protein, which shows biased expression in brain.
Ng et al., 2009 Gene NETO1 has been reported to regulate spatial learning and memory.
Chr19‐55 PRKCG Fagerberg et al., 2014 Gene PRKCG encodes a member of a family of serine‐ and threonine‐specific protein kinases. This gene shows biased expression in brain.

Chen et al., 2003

Shirafuji et al., 2019

Mutations in this gene results in neurodegenerative disorder spinocerebellar ataxia‐14 (SCA14).

CACNG6

CACNG7

CACNG8

Fagerberg et al., 2014 These genes encode a type II transmembrane AMPA receptor regulatory protein. Genes CACNG7 and CACNG8 are restrictedly expressed in brain.
Guan et al., 2016 Genes CACNG6 and CACNG8 have been identified as potential susceptible genes to schizophrenia.

CNOT3

Martin et al., 2019 Variations in gene CNOT3 cause a variable neurodevelopmental disorder.
TTYH1 Fagerberg et al., 2014 Gene TTYH encodes a member of the tweety family of proteins. This gene shows biased expression in brain.
Halleran et al., 2015 Gene TTYH is expressed during neuronal development.