Table 4

List of patients with variants in candidate disease genes

Proband	Gene	Variant: genomic coordinates	NM number	cDNA	Protein	Functional impact prediction						Gene Function	KO/KD phenotype*	Expression in Human Neocortex†	References
Proband	Gene	Variant: genomic coordinates	NM number	cDNA	Protein	SIFT	PolyPhen2	MutAsse.	Condel	Pmut	MutTast	Gene Function	KO/KD phenotype*	Expression in Human Neocortex†	References
2	HTT	chr4:3133374 chr4:3162034	NM_002111	c.C2108T c.C3779T	p.(P703L) p.(T1260M)	NP NP	P P	P NP	P NP	NP NP	P P	Ubiquitously expressed nuclear protein that regulates transcription; involved in vesicular traffic	Conditional mutants are small with progressive neurodegeneration	Moderate	27^, 28
4	SMARCA1	chrX:128599594	NM_139035	c.G2897T	p.(G966V)	P	P	P	P	P	P	Chromatin remodelling; Wnt signalling; Interacts with FOXG1	Hemizygous male/homozygous female KO show abnormal neuron proliferation and differentiation, increased brain and heart weight	Moderate	29^, 30
9	GABBR2	chr9:101133817	NM_005458	c.G1699A	p.(A567T)	P	NP	P	NP	NP	P	γ-aminobutyric acid (GABA) type B receptor; Regulation of neurotransmitter release	Homozygous KO mice show clonic seizures, hyperactivity, anxiety.	High	31
11	RHOBTB2	chr8:22865220	NM_001160036	c.A1528G	p.(N510D)	P	P	NP	P	NP	NP	Rho GTPase family; Binds to CUL3	ND	High	32
11	EIF4G1	chr3:184038482	NM_182917	c.G602A	p.(R201H)	P	P	NP	P	NP	P	Recruitment of mRNA to the 40S ribosomal subunit	ND	High	33