Table 1.

Recessive mutations in genes only known to cause dominant phenotypes

ID	Variant	Zygosity	Observed phenotype	Reported dominant phenotype
16N-0062	ITPR1:NM_002222:exon50:c.6862C>T:p.R2288X	Hom	GDD and brain atrophy	Spinocerebellar ataxia 15
16W-0091	VAMP1:NM_014231:exon2:c.129 + 1G>A	Hom	Congenital hypotonia, rigid spine, myopathic facies, normal CK	Spastic ataxia 1, autosomal dominant
16W-0191	MCTP2:NM_001159644:exon5:c.384dupT:p.N128 fs	Hom	Severe congenital heart disease, failure to thrive, developmental delay and nephrotic syndrome	Congenital heart disease
16W-0332	TBP:NM_001172085:exon2:c.171delG:p.Q57 fs	Hom	Familial mild ID with difficulty in walking and abnormal movement	Spinocerebellar ataxia 17
16W-0082	VAMP1:NM_001297438:exon2:c.128_129del:p.E43 fs	Hom	Atrial septal defect, fine/gross motor delay, hypotonia, muscle weakness, contractures, pneumonia, congenital myopathy	Spastic ataxia 1, autosomal dominant