Table 1 Clinical information of patients with GEN1 variants

C1

c.2642 A > C

p.H881P

F

2y

BL duplex kidney,

R ureteral ectopia, ureteral cyst, VUR (R V)

None

6y / G1

unknown

0/7/241,030

C2

c.2633T > C

p.L878P

F

1y

VUR (R IV, L IV)

None

4y9m / G1

unknown

0/5/246,044

C3

c.656 A > G

p.K219R

M

10y

L RHD, VUR (R II, L III)

None

9 m / G1

unknown

0/2/249,978

C4

c.2527 C > T

p.P843S

M

1y

horseshoe kidney, renal malrotation, VUR (R IV, L IV)

Microcephaly, delayed language development, atrial septal defect, umbilical hernia, short stature

3y4m / G1

unknown

0/7/250,554

C5

c.181T > A

p.S61T

F

5 m

VUR (L III)

None

1y4m / G1

unknown

0/42/275,818

C6

c.1201 C > T

p.R401X,508

M

8y

R RHD, VUR (R IV)

None

7y5m / G1

unknown

0/12/273,278

C7

c.824G > A

p.R275H

F

6y

VUR (L III)

None

15y2m / G1

unknown

1/48/280,456

C8

c.590 C > T

p.A197V

M

2y

L RHD, VUR (R V, L V)

None

1y9m / G3b

unknown

Not reported

C9

c.761T > C

p.V254A

M

1y

VUR (L III), PUV

Hydrocele

1y / G1

unknown

Not reported

C10

c.974G > T

p.G325V

F

2.5y

VUR (R IV, L IV)

None

4y4m / G1

unknown

0/7/279,952

C11

c.445G > A

p.D149N

M

4y

VUR (L IV)

None

3y7m / G1

unknown

0/12/251,480

C12

c.1356 C > G

p.I452M

M

3.5y

L RHD, VUR (R IV, L IV)

None

5y5m / G2

unknown

0/5/249,936

C13

c.181T > A

p.S61T

M

12y

BL RHD, VUR (L II)

Short stature

17y / G3b

father

0/42/275,818

C14

c.2327 A > G

p.D776G

F

10.5y

RHD(BL)

Dilated cardiomyopathy,

short stature

12y4m / G5

mother

0/5/250,374

C15

c.1201 C > T

p.R401X,508

M

15.5y

BL RHD, VUR (L IV)

None

15y5m / G4

unknown

0/12/273,278

C16

c.1071 + 3(IVS10) A > G

/

F

3.5y

VUR (R II)

Both knees valgus

4y / G5

Paternal

Not reported

C17

c.1106 A > T

p.H369L

M

5y

VUR(R IV), RHD

None

10y / G2

Maternal

Not reported

C18

c.314 C > G

p.T105R

M

2 m

RHD

None

7y6m / G3a

unknown

0/21/279,086

C19

c.1609T > C

p.C537R

F

9y

RHD, VUR(RIII)

None

12y / G1

mother

0/7/250,878

C20

c.1201 C > T

p.R401X,508

F

6y

UVJO

None

11y5m / G1

mother

0/12/273,278

C21

c.314 C > G + 1730T > C

p.T105R + p.I577T

M

before birth

PUJO

None

2y7m / G2

respectively from parents

/

C22

c.1609T > C

p.C537R

M

before birth

Congenital ureterovesical opening stenosis

None

4y3m / G2

unknown

0/7/250,878

C23

c.314 C > G

p.T105R

F

1y

VUR(RIII)

None

10y5m / G1

father

0/21/279,086

C24

c.1730T > C

p.I577T

M

before birth

PUJO(BL)

None

4y7m / G1

mother

0/2/250,480

C25

c.58 C > T + 181T > A

p.R20C + p. S61T

F

3y

VUR(LIV RIV)

None

4y6m / G2

respectively from parents

/

C26

c.314 C > G

p.T105R

F

/

solitary kidney

(R absence)

None

/

unknown

0/21/279,086

N1

c.1657 A > G

p.I553V

M

2y

Microscopic polyangiitis

Hematuria, NS

1y10m / G3a

father

Not reported

N2

c.2116T > C

p.S706P

F

11y

Growth and development retardation, brain atrophy

Alport syndrome

1y6m / G5

father

0/2/250,596