Paediatric or syndromic cardiomyopathy
Gene: MAP2K2
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
Cardiofaciocutaneous syndrome 4 OMIM#615280Created: 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
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.
Gain of function mutationsCreated: 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
Source NHS GMS was added to MAP2K2.
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
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