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Genetic epilepsy syndromes

Gene: MAP2K2

Green List (high evidence)

MAP2K2 (mitogen-activated protein kinase kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 17 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

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, 615280

Ivone Leong (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

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 MAP2K2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MAP2K2.

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

6 Dec 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: map2k2 has been classified as Green List (High Evidence).

23 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: map2k2 has been classified as Green List (High Evidence).

23 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MAP2K2 were set to 29799162; 2471937; 27799067

23 Nov 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MAP2K2 were set to

22 Nov 2018, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MAP2K2 were changed from to Cardiofaciocutaneous syndrome 4, 615280

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to MAP2K2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MAP2K2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MAP2K2 was created by Sarah Leigh