Table 1.

Patients with disease-causing variants in lysosome-related genes.

Patient	Gene	Transcript ID	Nucleotide	Amino acid	Zygosity	Inheritance	Classificationa	Disease
A	MYO6	NM_004999.3	c.1983+1G>A	p.?	hom	AR	Pathogenic	Deafness type 37
B	CLN6	NM_017882.2	c.[697_705del];[c.13C>T]	p.[Leu233_Ile235del];[Arg5Trp]	comp.het	AR	Pathogenic	Ceroid lipofuscinosis neuronal type 6
C	KCTD7	NM_001167961.2	c.422T>C	p.Leu141Pro	hom	AR	Likely Pathogenic	Ceroid lipofuscinosis neuronal type 14
D	LRBA	NM_006726.4	c.3985_3986del	p.Asp1329Tyrfs*18	hom	AR	Pathogenic	Immunodeficiency common variable 8
E	ARSB	NM_000046.3	c.[310C>A];[928A>G]	p.[Gln104Lys];[Asn310Asp]	comp.het	AR	Likely Pathogenic	Mucopolysaccharidosis type VI

hom = homozygous; comp.het = compound heterozygous; het = heterozygous; AR = autosomal recessive; AD = autosomal dominant; VUS = variant of uncertain significance.

^afollowing the ACMG 2015 guidelines.