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Intellectual disability syndromic and non-syndromic

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, 11:25 p.m. | Last Modified: 26 Apr 2022, 11:25 p.m.
Panel Version: 0.4702

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

26 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cnnm2 has been classified as Green List (High Evidence).

26 Apr 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: CNNM2 were set to

26 Apr 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CNNM2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

26 Apr 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CNNM2 were changed from to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CNNM2 was added gene: CNNM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNNM2 was set to Unknown