From: GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract
Subject number | Nucleotide changes | Amino acid changes | Gender | Age of diagnosis | Renal manifestations | Extrarenal manifestations | Last investigation age / GFR category | Variation segregation | gnomAD* |
---|---|---|---|---|---|---|---|---|---|
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 |