. Author manuscript; available in PMC: 2021 Sep 28.

Published in final edited form as: Genet Med. 2020 Jul 16;22(11):1821–1829. doi: 10.1038/s41436-020-0905-3

Table 2.

Site categorization for eMERGEseq panel genes and single-nucleotide variants (SNVs).

eMERGE consensus list		Site categorization
Disease	Gene(s)/SNV^a	CCHMC^b	CCHMC^c	CHOP	CU	MC	NU
Hereditary breast and ovarian cancer	BRCA1,^dBRCA^d	P, T, AO	–	IA	G	A	NC
Li–Fraumeni syndrome	TP53 ^d	T	Ca	IA	G	A	NC
Peutz–Jeghers syndrome	STK11 ^d	T	Ca	IA	G	A	NC
Lynch syndrome	MLH1,^dMSH2,^dMSH6,^dPMS2^d	P, T, AO	–	IA	G	NC	NC
Familial adenomatous polyposis	APC ^d	P, T	Ca	IA	G	A	NC
Juvenile polyposis	BMPR1A,^dSMAD4^d	P, T	–	IA	G	A	NC
MYH-associated polyposis	MYH ^d	P, T, C	Ca	IA	G	A	NC
Von Hippel–Lindau syndrome	VHL ^d	T	Ca	IA	G	A	NC
Multiple endocrine neoplasia type 1	MEN1 ^d	T	Ca	IA	OK	A	NC
Multiple endocrine neoplasia type 2	RET ^d	P, T	Ca	IA	OK	A	NC
Familial medullary thyroid cancer	RET ^d	P, T	Ca	IA	G	A	NC
PTEN hamartoma tumor syndrome	PTEN ^d	T	Ca	IA	G	A	NC
Hereditary paraganglioma–pheochromocytoma syndrome	SDHD,^dSDHAF2,^dSDHC,^dSDHB^d	T	Ca	IA	OK	A	NC
Tuberous sclerosis complex	TSC1,^dTSC2^d	T	Ca	IA	OK	A	NC
WT1-related Wilms tumor	WT1 ^d	T	Ca	IA	G	A	NC
Neurofibromatosis type 2	NF2 ^d	T	Ca	IA	OK	A	NC
Ehlers–Danlos syndrome, vascular type	COL3A1 ^d	T	FBV	IA	OK	A	NC
Marfan syndrome, Loeys–Dietz syndrome, and familial thoracic aortic aneurysms and dissections	FBN1,^dTGFBR1,^dTGFBR2,^dSMAD3,^dACTA2,^dMYLK,^dMYH11^d	T	FBV	IA	OK	A	NC
Hypertrophic cardiomyopathy, dilated cardiomyopathy	MYBPC3,^dMYH7,^dTNNT2,^dTNNI3,^dTPM1,^dMYL3,^dACTC1,^dPRKAG2,^dMYL2,^dLMNA^d	P, T	H	IA	OK	A	NC
Fabry disease	GLA ^d	T	LK	IA	OK	A	NC
Catecholaminergic polymorphic ventricular tachycardia	RYR2 ^d	P, T	H	IA	G	A	NC
Arrhythmogenic right-ventricular cardiomyopathy	PKP2,^dDSP,^dDSC2,^dTMEM43,^dDSG2^d	P, T	H	IA	G	A	NC
Romano–Ward long QT 1, 2, and 3, Brugada syndrome	KCNQ1,^dKCNH2,^dSCN5A^d	P, T	H	IA	G	A	NC
Familial hypercholesterolemia	LDLR,^dAPOB,^dPCSK9^d	P, T	H	PA	G	NC	NC
Malignant hyperthermia susceptibility	RYR1,^dCACNA1S^d	P, T	PGx	IA	G	A	NC
Ornithine transcarbamylase deficiency	OTC ^d	P, T	–	IA	G	A	NC
Breast cancer susceptibility	PALB2	P, T, AO	–	–	G	A	T, Ca
Colorectal cancer susceptibility	POLD1, POLE	P, T, AO	–	IA	G	A	T, Ca
Long QT syndrome	KCNE1	–	–	IA	G	A	T
Andersen–Tawil syndrome	KCNJ2	P, T	–	IA	G	A	T
Maturity onset diabetes of the young	HNF1A	P, T	–	IA	G	A	T
Maturity onset diabetes of the young	HNF1B	P, T	–	–	G	A	T
Ehlers–Danlos syndrome, classic type	COL5A1	T	–	IA	OK	A	T
Factor V Leiden	F5 ^a	P, T	–	–	–	A	T
Bloom syndrome	BLM ^a	T, C	–	–	–	A	T, Ca, B
21-Hydroxylase-deficient congenital adrenal hyperplasia	CYP21A2 ^a	T, C	–	–	–	A	T
Familial Mediterranean fever	MEFV ^a	P, T, C	–	–	–	A	T
Medium-chain acyl-coA dehydrogenase deficiency	ACADM ^a	P, T, C	–	–	–	A	T
Hereditary fructose intolerance	ALDOB ^a	P, T, C	–	–	–	A	T
Maple syrup urine disease	BCKDHB ^a	P, T, C	–	–	–	A	T, B
Tyrosinemia type 1	FAH ^a	P, T, C	–	–	–	A	T
Glycogen storage disease type 1	G6PC ^a	P, T, C	–	–	–	A	T
Carnitine palmitoyltransferase II deficiency	CPT2 ^a	P, T, C	–	–	–	A	T
Hereditary hemochromatosis	HFE ^a	P, T	–	IA	–	A	T

CCHMC Cincinnati Children’s Hospital Medical Center categories: AO adult onset, C Carrier, Ca cancer risk, FBV fragile blood vessel risk, H heart disease risk, LK liver/kidney failure risk, P preventable, T Treatable, PGx drug response. CHOP Children’s Hospital of Philadelphia categories: IA immediately actionable, PA possibly actionable. CU Columbia University categories: G good treatment or prevention, OK treatment options partially effective. MC Mayo Clinic categories: A actionable, NC no choice. NU Northwestern University categories: B behavior and learning problems, Ca cancer, NC no choice, T treatment available. - Not returned.

SNV only.

Adolescent.

Biobank.

Gene considered medically actionable by the American College of Medical Genetics and Genomics.