Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

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 18 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

I don't know

Cardiofaciocutaneous syndrome 4 OMIM#615280
Created: 25 Mar 2019, 4:30 p.m.
30 DM variants on HGMD - mainly associated with cardio-facio-cutaneous syndrome. So may be more appropriate on the paediatric panel. Paediatric onset: Kaski Circ Cardiovasc Genet. 2012;5:317-326.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Consequence of mutations in G2P is activating. Comments from Reviewer: Gain of function mutations and deletions of MAP2K2 have been reported to cause CFC. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 10:33 a.m. Gain of function mutations in MAP2K2 cause Cardio-Facio-cutanenous syndrome. This disorder share phenotypes with Legius syndrome. No reports of mutations in MAP2K2 causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 3:02 p.m.
Gain of function mutations and deletions of MAP2K2 have been reported to cause Cardio-Facio-Cutaneous syndrome. No strong association with Noonan syndrome or other other 'RASopathies'. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 4:15 p.m.
Gain of function mutations and large deletions - Helen Savage (Congenica Ltd), Jan. 27, 2016, 3:19 p.m.
Created: 5 Feb 2016, 9:06 a.m.
Comment on mode of inheritance: Confirmed in G2P, and not on imprinted gene list.
Created: 5 Feb 2016, 9 a.m.
Comment on list classification: Confirmed DD gene for Cardiofaciocutaneous syndrome.
Created: 5 Feb 2016, 8:59 a.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations
Created: 1 Feb 2016, 10:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardio-Facio-Cutaneous syndrome

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Cardio-Facio-Cutaneous syndrome type 4
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 4 615280
  • Cardiofaciocutaneous syndrome 4
  • syndromic HCM
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
OMIM
601263
Clinvar variants
Variants in MAP2K2
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAP2K2.

4 Sep 2019, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Expert List was added to MAP2K2. Mode of pathogenicity for gene MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Cardiofaciocutaneous syndrome 4 615280 for gene: MAP2K2 Publications for gene MAP2K2 were changed from PMID: 21396583; 23379592 to 23379592; 21396583

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: MAP2K2 was added gene: MAP2K2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K2 were set to PMID: 21396583; 23379592 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome