Early onset or syndromic epilepsy
Gene: MAP2K2
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. 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
Seizures have variable presentation as part of CFC syndromeCreated: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiofaciocutaneous syndrome, 615280
Comment on list classification: Promoted from amber to green. MAP2K2 is confirmed to be associated with Cardiofaciocutaneous syndrome 4 in both OMIM and Gene2Phenotype. Only Gene2Phenotype lists seizures as a phenotype.
There are three reported cases (PMID: 29799162, 24719372, 27799067)
of unrelated probands with different variants (2 missense and one deletion) who have seizures. It should be noted that not all patients with a MAP2K2 variant experience seizures.Created: 23 Nov 2018, 9:49 a.m.
Seizures are part of the phenotype in CFC.Created: 16 Aug 2018, 11:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiofaciocutaneous syndrome 4, MIM#615280
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to MAP2K2.
Source NHS GMS was added to MAP2K2.
Zornitza Stark: Seizures are part of the pheno
Mode of inheritance for gene: MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: map2k2 has been classified as Green List (High Evidence).
Gene: map2k2 has been classified as Green List (High Evidence).
Publications for gene: MAP2K2 were set to 29799162; 2471937; 27799067
Publications for gene: MAP2K2 were set to
Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, 615280
Expert Review Amber was added to MAP2K2. Panel: Genetic Epilepsy Syndromes
MAP2K2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
MAP2K2 was created by Sarah Leigh