Early onset or syndromic epilepsy
Gene: MAP2K1
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, 615279
Comment on list classification: Promoted from amber to green. Both Omim and Gene2Phenotype confirmed that MAP2K1 is associated with Cardiofaciocutaneous syndrome and seizure is listed as a phenotype by Gene2Phenotype but not OMIM.
A study (PMID: 27862862) reported a proband with a missense variant who has seizures. A large study (PMID: 18039235) examining patients from North America, Australia and UK found that 4 out of 5 patients with different missense variants in MAP2K1 had seizures.Created: 22 Nov 2018, 4:31 p.m.
Seizures are part of the phenotype of CFC.Created: 16 Aug 2018, 11:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiofaciocutaneous syndrome 3, MIM#615279
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to MAP2K1.
Source NHS GMS was added to MAP2K1.
Zornitza Stark: Seizures are part of the pheno
Gene: map2k1 has been classified as Green List (High Evidence).
Gene: map2k1 has been classified as Green List (High Evidence).
Publications for gene: MAP2K1 were set to 18039235
Publications for gene: MAP2K1 were set to
Mode of inheritance for gene: MAP2K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were changed from to Cardiofaciocutaneous syndrome 3, 615279
Expert Review Amber was added to MAP2K1. Panel: Genetic Epilepsy Syndromes
MAP2K1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
MAP2K1 was created by Sarah Leigh