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Renal Tubulopathies and related disorders

Gene: CNNM2

Green List (high evidence)
CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2)
EnsemblGeneIds (GRCh38): ENSG00000148842
EnsemblGeneIds (GRCh37): ENSG00000148842
OMIM: 607803, Gene2Phenotype
CNNM2 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 26 Apr 2022, 11:14 p.m.
Last Modified: 26 Apr 2022, 11:14 p.m.
Panel version: Imported from Hypomagnesaemia panel version Imported from Mendeliome panel version 0.13382

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesemia 6, renal MIM#613882
  • Hypomagnesemia, seizures, and mental retardation MIM#616418
OMIM
607803
Clinvar variants
Variants in CNNM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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