Likely inborn error of metabolism
Gene: CNNM2

CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2)
EnsemblGeneIds (GRCh38): ENSG00000148842
EnsemblGeneIds (GRCh37): ENSG00000148842
OMIM: 607803, Gene2Phenotype
CNNM2 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At 4 least variants reported in 4 cases, in vitro evidence also reported
Created: 28 Feb 2017, 10:47 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 6, renal 613882; Hypomagnesemia, seizures, and mental retardation 616418

Publications

Created: 23 Feb 2017, 5:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism)
Hypomagnesemia 6, renal 613882
Hypomagnesemia, seizures, and mental retardation 616418

OMIM

607803

Clinvar variants

Variants in CNNM2

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CNNM2. Source London North GLH was added to CNNM2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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