Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Correction to: Genetics in Medicine 22:2020; 10.1038/s41436-020-0772-y; published online 17 March 2020

The original PDF version of this Article contained an error in Table 3. For subject number 74, the column labeled “Genetic testing” should read CFI p.Tyr369Ser, not CFI p.Tyr200Ser. This has now been corrected in both the PDF and HTML versions of the Article.

Table 3

Patients with a known genetic disease referred to the clinic for disease management (n = 19).

Subject number	Sex/age/ ethnicity	FH	Diagnosis	Basis for diagnosis	Genetic testing	Testing lab	ACMG criteria	Reason for referral
1	F/50/EUR	Yes—multiple	Fabry disease	Low α-GAL A; positive family history	GLA p.Arg227Gln	Mount Sinai, New York, NY	LP: PM1, PM2, PP2, PP3, PP5	Renal biopsy
4–1	F/56/EUR	Yes—multiple	ADPKD	Cystic kidneys, positive family history		IIHG (Kidneyseq™), Iowa City, IA		CKD f/u
6	M/21/EUR	Yes—multiple	Fabry disease	Low α-GAL A; positive family history	GLA p.Ser297Tyr	Mount Sinai, New York, NY	LP: PM1, PM2, PM5, PP2, PP3	CKD f/u
7	M/29/EUR	No	Cystinosis	Fanconi syndrome, renal rickets and corneal crystals in infancy		Not done		Cysteamine Rx, manage disease
8	F/59/EUR	Yes—multiple	Fabry disease	Slit lamp, positive family history	GLA p.Trp204Ter	Mount Sinai, New York, NY	P: PVS1, PM1, PM2, PP3	CKD f/u
9	M/54/AFR	Yes—multiple	Fabry disease	Low α-GAL A; positive family history	GLA p.Trp340Ter	Mount Sinai, New York, NY	P: PVS1, PM1, PM2, PP3	CKD f/u
10	M/47/EUR	Yes—multiple	Fabry disease	Low α-GAL A; positive family history	GLA p.Ala29GlyfsTer2	Mount Sinai, New York, NY	P; PVS1, PM1, PM2, PP3	CKD f/u
11	F/27/EUR	Yes—sister	Cystinosis	Bone marrow biopsy positive for cystine crystals		Not done		Cysteamine Rx
19	F/23/EUR	No	Tuberous sclerosis	Clinical criteria		Not done		Manage renal AMLs
26	F/32/EUR	No	Tuberous sclerosis + TMA in pregnancy	TSC: clinical criteria	TSC 1c.1029+3A>G; PLG p.Thr200Ala	CHG, Cambridge, MA; MORL (Genetic Renal Panel), Iowa City, IA	VUS: PM2, PP3, PP5; VUS: PP3	Manage tuberous sclerosis
27	M/18/EUR	Yes—multiple	Fabry disease	Kidney biopsy	GLA p.Cys63Arg	Mount Sinai, New York, NY	LP: PM1, PM2, PM5, PP2, PP3	CKD f/u
28	M/34/EUR	No	Fabry disease	Symptoms; positive family history	GLA p.Gly260Glu	Mount Sinai, New York, NY	LP: PM1, PM2, PM5, PP2, PP3	CKD f/u
31	M/24/EUR	No	Unilateral renal aplasia	Antenatal and postnatal imaging		Not done		CAKUT f/u
37	M/59/EUR	Yes—multiple	Suspected Fabry, no manifestation	Low α-GAL A; positive family history	GLA p.Ala143Thr	Mount Sinai, New York, NY	LP: PM1, PM5, PP2, PP3, PP5	Referred for renal biopsy
62	F/79/EUR	Yes—multiple	Familial hypocalciuric hypercalcemia	Hypercalcemia, positive family history	CaSR p.Pro55Leu	Mayo Medical Lab, Rochester, MN	LP: PM1, PM2, PP2, PP3, PP4, PP5	Post-test genetic counseling
66	F/34/EUR	Yes—sister	aHUS	TMA, genetic screening	CFH p.Leu1189Argfs*2	4	P: PVS1, PM2, PP3	aHUS post-transplant f/u
67	M/30/EUR	No	None	Asymptomatic	Negative for NPHP1 variant	IIHG (Kidneyseq™), Iowa City, IA		Preconception-counseling, spouse with NPHP1 deletion
74	F/40/EUR	No	aHUS	TMA, genetic screening	CFI p.Tyr369Ser	MORL (Genetic Renal Panel), Iowa City, IA	LP: PM1, PM2, PP3, PP5	aHUS post-transplant f/u
75	F/38/EUR	No	aHUS	TMA, genetic screening	CFH p.Glu625Ter	MORL (Genetic Renal Panel), Iowa City, IA	P: PVS1, PM2, PP3	aHUS post-transplant f/u

Genetic screening in these patients was performed prior to referral.

ACMG American College of Medical Genetics and Genomics, ADPKD autosomal dominant polycystic kidney disease, AFR African/African American, aHUS atypical hemolytic uremic syndrome, AML angiomyolipoma, CAKUT congenital anomalies of kidney and urinary tract, CHG Center for Human Genetics, CKD chronic kidney disease, EUR Caucasian, f/u follow up, FH family history, IIHG Iowa Institute of Human Genetics, LP likely pathogenic, MORL Molecular Otolaryngology and Renal Research Laboratories, P pathogenic, TMA thrombotic microangiopathy, TSC tuberous sclerosis, VUR vesicoureteric reflux, VUS variant of unknown significance, α-GAL A α-galactosidase A.