Table 1.

Pathogenic human GRM7 variants and clinical features

Nucleotide change	Amino acid substitution	Clinical features of patients	References
c.1865G>A	p.Arg622Gln	ASD	Sanders et al. (2012), Iossifov et al. (2014)
c.461T>C	p.Ile154Thr	DD, hypotonia, seizures, brain malformation	Charng et al. (2016)
c.1972C>T; c.2024C>A	p.Arg658Trp; p.Thr675Lys	DD, ID, hypotonia, seizures, hypomyelination, brain atrophy	Charng et al. (2016)
c.1757G>A	p.Trp586X	ID, seizures, limb hypertonia, microcephaly, cerebral atrophy, leukodystrophy	Reuter et al. (2017)

ASD, autism spectrum disorder; DD, developmental delay; ID, intellectual disability.