Renal Tubulopathies and related disorders
Gene: CNNM2
HSMR can be divided into 3 types; (Review PMID:35170241)
Type I: AD-inherited simple hypomagnesemia
Type II: AD-inherited hypomagnesemia with epilepsy and ID/DD, is the most common and mostly de novo variants
Type III: AR-inherited hypomagnesemia with epilepsy and ID/DD, was relatively rare. Only three cases had been reported.Created: 26 Apr 2022, 11:14 p.m. | Last Modified: 26 Apr 2022, 11:14 p.m.
Panel Version: 0.13382
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: CNNM2 was added gene: CNNM2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CNNM2 were set to 35170241; 34604137 Phenotypes for gene: CNNM2 were set to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418