Intellectual disability update Jan 2018

Gene: MAPK10

Comment when marking as ready: Small amount of evidence for variants in this gene with an isolated ID presentation. Watchlist tag added.

Created: 8 Mar 2018, 3:24 p.m.

I don't know

added watchlist tag

Created: 8 Mar 2018, 3:21 p.m.

Comment on list classification: Changed from Red to Amber after clinical review comments

Created: 8 Mar 2018, 3:21 p.m.

After clinical review it was thought this gene should rated Amber. HB commented that PMID 23329067 details two cases with translocations where the breakpoints include MAPK10. One presented with ID in the absence of seizures, although cannot find wider support for this hypothesis. Worth marking as amber and watchlist on the ID panel.

Created: 8 Mar 2018, 3:20 p.m.

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies and is a severe form of epilepsy associated with intractable seizures and impaired cognition. Although there is enough evidence to support the phenotype, MAPK10 is a candidate gene tested for this disorder and variants within this gene are reported as part of current diagnostic practice.

Created: 7 Mar 2018, 11:09 a.m.

Comment on phenotypes: added phenotype from Orphanet and Gene2Phenotype

Created: 7 Mar 2018, 11:07 a.m.

Monoallelic confirmed on G2P, not on the imprinted gene list. This is a possible DD gene in Gene2Phenotype for EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE

Created: 7 Mar 2018, 11 a.m.

I am not sure if this should be a Green on the Intellectual Disability panel since it epilepsy associated with intractable seizures that result in the mental deterioration, ID is not independently present? It is currently rated Green on the Epilepsy Plus and Epileptic encephalopathy panels. To be reviewed by internal clinical team as to wether this gene should be Green on ID panel.

Created: 7 Mar 2018, 10:57 a.m.