Table 1.

Summary of genes causing HCM phenocopy conditions.

Gene	Inheritance	Protein Class (HPRD)	Disorders and Associated Phenotypes
mtDNA	Mi	Mitochondrial protein	Kearns–Sayre syndrome and multisystem involvement
BRAF	AD	Serine/threonine kinase	Noonan syndrome, LEOPARD syndrome, Cardiofaciocutaneous syndrome
FXN	AR	Transport/cargo protein	Friedreich ataxia
GAA	AR	Enzyme: Glucosidase	Pompe disease
GLA	XL	Enzyme: Galactosidase	Fabry disease
HRAS	AD	GTPase	Costello syndrome, Congenital myopathy with excess of muscle spindles
KRAS	AD	GTPase	Noonan syndrome, Cardiofaciocutaneous syndrome
LAMP2	XL	Adhesion molecule	Danon disease
MAP2K1	AD	Dual specificity kinase	Cardiofaciocutaneous syndrome
MAP2K2	AD	Dual specificity kinase	Cardiofaciocutaneous syndrome
NRAS	AD	GTPase	Noonan syndrome
PRKAG2	AD	Serine/threonine kinase	Hypertrophic cardiomyopathy (HCM), Wolff–Parkinson–White syndrome, glycogen storage disease of heart
PTPN11	AD	Tyrosine phosphatase	Noonan syndrome
RAF1	AD	Serine/threonine kinase	LEOPARD syndrome, Noonan syndrome
RIT1	AD	GTPase	Noonan syndrome
SOS1	AD	Guanine nucleotide exchange factor	Noonan syndrome
SOS2	AD	Guanine nucleotide exchange factor	Noonan syndrome 9
TTR	AD	Transport/cargo protein	Hereditary transthyretin amyloidosis,

Abbreviations: AD: autosomal dominant inheritance; AR: autosomal recessive inheritance; XL: X-linked inheritance; Mi: mitochondrial inheritance.