List of diseases covered by
Bartter Syndrome NGS panel

Gene Condition
ATP6V1B1 Renal tubular acidosis with deafness
BSND Bartter syndrome, type 4a
CA2 Osteopetrosis, autosomal recessive 3,
with renal tubular acidosis
CASR Hyperparathyroidism, neonatal;
Hypocalcemia, autosomal dominant, with Bartter syndrome;
Hypocalciuric hypercalcemia, type I
CLCNKA Bartter syndrome, type 4b, digenic
CLCNKB Bartter syndrome, type 3;
Bartter syndrome, type 4b, digenic
CLDN16 Hypomagnesemia 3, renal
CLDN19 Hypomagnesemia 5, renal,
with ocular involvement
FXYD2 Hypomagnesemia 2, renal
GNA11 Hypocalcemia, autosomal dominant 2; Hypocalciuric hypercalcemia, type II
HSD11B2 Apparent mineralocorticoid excess
KCNJ1 Bartter syndrome, type 2
KCNJ10 Enlarged vestibular aqueduct, digenic;
SESAME syndrome
KLHL3 Pseudohypoaldosteronism, type IID
NR3C2 Hypertension, early-onset, autosomal dominant,
with exacerbation in pregnancy;
Pseudohypoaldosteronism type I, autosomal dominant
SCNN1A Bronchiectasis with or
without elevated sweat chloride 2; Pseudohypoaldosteronism, type I;
Liddle syndrome 3
SCNN1B Bronchiectasis with or
without elevated sweat chloride 1; Liddle syndrome 1;
Pseudohypoaldosteronism, type I
SCNN1G Bronchiectasis with or
without elevated sweat chloride 3; Liddle syndrome 2;
Pseudohypoaldosteronism, type I
SLC12A1 Bartter syndrome, type 1
SLC12A3 Gitelman syndrome
SLC4A1 Cryohydrocytosis; Ovalocytosis, SA type;
Renal tubular acidosis, distal, AD; Renal tubular acidosis, distal, AR;
Spherocytosis, type 4
SLC4A4 Renal tubular acidosis, proximal,
with ocular abnormalities
WNK1 Neuropathy,
hereditary sensory and autonomic, type II;
Pseudohypoaldosteronism, type IIC
WNK4 Pseudohypoaldosteronism, type IIB