Table 2.

Genes specifically evaluated on exome sequencing

Gene	Associated syndrome
ALPL	Hypophosphatasia
CA2	Osteopetrosis with renal tubular acidosis
CCDC22	Ritscher–Schinzel syndrome
CHD7	CHARGE syndrome
CLCN7	Autosomal dominant osteopetrosis type II
CTSK	Pyknodysostosis
LRP5	Autosomal dominant osteopetrosis, type I
OSTM1	Autosomal recessive osteopetrosis, type V
PLEKHM1	Autosomal recessive osteopetrosis, type VI
TCIRG1	Autosomal recessive osteopetrosis, type I
TNFRSF11A	Autosomal recessive osteopetrosis, type VII
VPS35L	Ritcher–Schinzel like syndrome
WASHC5	Ritscher–Schinzel syndrome