Early onset or syndromic epilepsy
Gene: MAP2K1

MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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. 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

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Seizures have variable presentation as part of CFC syndrome
Created: 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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Ivone Leong (Genomics England Curator)

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.

Created: 22 Nov 2018, 4:31 p.m.

Panel version: 0.1090

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 16 Aug 2018, 11:45 a.m.

Panel version: 0.335

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cardiofaciocutaneous syndrome 3, 615279

OMIM

176872

Clinvar variants

Variants in MAP2K1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MAP2K1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MAP2K1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

22 Nov 2018, Gel status: 3