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Genetic epilepsy syndromes

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 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD & AR hypomagnesia, seizures and mental retardation - onset of seizures assoc with low serum magnesium in first year of life. Arjona et al, 2014 - 3 unrelated German patients - onset of seizures assoc with low serum magnesium in first year of life. 2 diff de novo het missense mutations. In addition 2 sibs from a consang Serbian family who presented with seizutres in the neonatal period were hom for a missense variant. In vitro studies were consistent with LOF mutation
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Monoallelic variants are also associated with Hypomagnesemia 6, renal 613882, but this condition does not include seizures
Created: 9 Apr 2018, 4:52 p.m.
Gene originally listed on the Intellectual disability panel V2.42.
Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in 3 unrelated cases (one case was homozygous). Supporting functional studies were provided for each variant (PMID 24699222).
Created: 9 Apr 2018, 4:51 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia, seizures, and mental retardation 616418

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation 616418
OMIM
607803
Clinvar variants
Variants in CNNM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CNNM2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CNNM2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

9 Apr 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CNNM2 were set to Hypomagnesemia, seizures, and mental retardation 616418

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CNNM2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

9 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CNNM2 was created by Sarah Leigh