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 |