List of diseases covered by
Hypomagnesemia NGS panel
Gene | Condition |
BSND | Bartter syndrome, type 4a |
CASR | Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I; Epilepsy idiopathic generalized, susceptibility to, 8 |
CLCNKB | Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic |
CLDN16 | Hypomagnesemia 3, renal |
CLDN19 | Hypomagnesemia 5, renal, with ocular involvement |
CNNM2 | Hypomagnesemia 6, renal; Hypomagnesemia, seizures, and mental retardation |
CNNM4 | Jalili syndrome |
EGF | Hypomagnesemia 4, renal |
FAM111A | Kenny-Caffey syndrome, type 2; Gracile bone dysplasia |
FXYD2 | Hypomagnesemia 2, renal |
HNF1B | Renal cysts and diabetes syndrome; Diabetes mellitus, noninsulin-dependent; Renal cell carcinoma |
KCNA1 | Episodic ataxia/myokymia syndrome |
KCNJ10 | Enlarged vestibular aqueduct, digenic; SESAME syndrome |
MAGT1 | Congenital disorder of glycosylation, type Icc; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia |
PCBD1 | Hyperphenylalaninemia, BH4-deficient, D |
SARS2 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis |
SLC12A3 | Gitelman syndrome |
TRPM6 | Hypomagnesemia 1, intestinal |