Early onset or syndromic epilepsy

Gene: MAPK10

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: Red.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Red List (low evidence)

Also known as JNK3 - Shoichet et al 2006 - truncation of the gene (exon 10-14 del) with developmental epileptic encephalopathy due to de novo balanced translocation disrupting this gene. OMIM states it to be a VUS as its contribution to epilepsy has not been confirmed.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
epileptic encephalopathy

Publications

• 16249883
• 23329067

Comment when marking as ready: The the variant RCV000007138 has been reclassified in OMIM to a variant of unknown significance due to lack of evidence for the gene disease association.

Created: 8 Nov 2018, 4:33 p.m.

Red List (low evidence)

I am not sure what evidence the previous reviews were based on, but please note that the variant described in Shoichet et al has been re-classified as a VOUS in OMIM. A further patient with a translocation is reported by Kunde et al, but I cannot find any other evidence of disease association, and hence I don't believe there is sufficient evidence for gene-disease association. The other 4 reviewers appear to practice at the same centre, and are presumably reporting the gene is on a single diagnostic panel rather than 4 different ones.

Created: 16 Aug 2018, 11:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 16249883

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Comment on list classification: This is a possible DD gene, however 4 reviewers agree and all report variants within this gene as part of their current diagnostic practice.

Created: 20 Jan 2016, 4:22 p.m.

Comment on mode of inheritance: Monoallelic confirmed on G2P, not on the imprinted gene list.

Created: 20 Jan 2016, 1:37 p.m.

Comment on list classification: 4 reviewers agree this should be on the green gene. It is a "Possible DD gene" on G2P.

Created: 20 Jan 2016, 1:36 p.m.