Table 1.

Classification of ADPKD and ADPLD including gene descriptor

Designationa	Description	Phenotype			Example
		PKD	ESRD Risk (Age)	PLD
ADPKDb
ADPKD-PKD1T	ADPKD due to PKD1 truncating mutationc	Severe	Very high (55 yr)	Absent to severe	Figure 1A, Table 2
ADPKD-PKD1NT	ADPKD due to PKD1 nontruncating mutationd	Mild to severe	High (67 yr)	Absent to severe	Figure 1, B and G, Table 2
ADPKD-PKD1 ULP	ADPKD due to PKD1 ultra low penetrance allele	Extremely mild	None	Absent to severe	Figure 1D, Table 4
ADPKD-PKD2	ADPKD due to PKD2 mutation	Mild	Low (79 yr)	Absent to severe	Figure 1C, Table 2
ADPKD-GANAB	ADPKD due to GANAB mutation	Very mild	None	Absent to severe	Figure 1E, Table 2
ADPLDe
ADPLD-PRKCSH	ADPKD due to PRKCSH mutation	Absent to very mild	None	Mild to severe	Figure 1H
ADPLD-SEC63	ADPKD due to SEC63 mutation	Absent to very mild	None	Mild to severe	18
ADPLD-LRP5	ADPKD due to LRP5 mutation	Absent to very mild	None	Mild to severe	19
ADPLD-GANAB	ADPLD due to GANAB mutation	Very mild	None	Mild to severe	Table 2
ADPLD-ALG8	ADPLD due to ALG8 mutation	Absent to very mild	None	Absent to severe	20
ADPLD-SEC61B	ADPLD due to SEC61B mutation	Absent to very mild	None	Mild to severe	20
Biallelicf
ADPKD-PKD1a,b	Typical ADPKD due to two PKD1 alleles	Severe	High to very high	Absent to severe	Table 4
ADPKDVEO-PKD1a,b	Symptomatic infantile ADPKD due two PKD1 alleles	Severe infantile	Extremely high	Absent to mild	Table 4
ADPKDVEO-PKD2a,b	Symptomatic infantile ADPKD due two PKD2 alleles	Severe infantile	Extremely high	Absent to mild	Table 4

T, truncating; NT, nontruncating.

^aExamples are shown to illustrate the disease plus gene terminology but other combinations are possible.

^bADPKD is defined as dominantly inherited disease with significant PKD,^31,32 with or without significant PLD, and without phenotypes suggesting an alternative disease. Subjects with a proven pathogenic ADPKD allele, even if the renal disease does reach the imaging criteria, would be considered ADPKD.

^cFrameshifting deletion, duplication or insertion, nonsense, typical splicing mutation (disrupting the canonic intronic dinucleotides), or inframe deletion, duplication or insertion of ≥5 amino acids.

^dMissense, atypic splicing mutation (not disrupting the canonic intronic dinucleotides), or inframe deletion, duplication, or insertion of ≤4 amino acids.

^eADPLD is defined as dominantly inherited disease with significant PLD without significant PKD.

^fPKD due to two mutations to the same ADPKD gene found on opposite alleles (in trans).