Early onset or syndromic epilepsy

Gene: CNNM2

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

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

• 24699222

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

• 24699222