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Cardiomyopathies - including childhood onset

Gene: MAP2K1

Green List (high evidence)

MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 20 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 3 OMIM#615279
Created: 25 Mar 2019, 4:30 p.m.
Variants in HGMD associated with Cardio-facio-cutaneous syndrome, Noonan and Costello syndrome. 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: Activating mutation consequence in G2P. Reviewer Comments: Gain of function mutations in MAP2K1 are responsible for up to 20% of cases of CFC. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 10:31 a.m. Gain of function mutations in MAP2K1 cause Cardio-Facio-cutanenous syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. No reports of mutations in MAP2K1 causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 2:55 p.m. Gain of function mutations predicted to be associated with Noonan syndrome in fetuses with abnormal ultrasound findings (see PMID). Possible rare cause of Noonan syndrome; more commonly associated with Cardio-Facio-Cutaenous syndrome and LEOPARD syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:01 p.m.
Created: 5 Feb 2016, 8:55 a.m.
Comment on mode of inheritance: Confirmed on G2P, and not on imprinted gene list.
Created: 5 Feb 2016, 8:48 a.m.
Comment on list classification: Confirmed DD gene for Cardiofaciocutaneous syndrome.
Created: 5 Feb 2016, 8:48 a.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations
Created: 1 Feb 2016, 10:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardio-Facio-Cutaneous syndrome; LEOPARD 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
  • CFC syndrome
  • ?Noonan syndrome
  • syndromic HCM
  • LEOPARD syndrome
  • Cardiofaciocutaneous syndrome 3
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
OMIM
176872
Clinvar variants
Variants in MAP2K1
Penetrance
None
Publications
  • PMID: 21396583
  • 23321623 (publication referring to Noonan syndrome association).
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 MAP2K1.

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 MAP2K1. Mode of pathogenicity for gene MAP2K1 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 CFC syndrome; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome for gene: MAP2K1 Publications for gene MAP2K1 were changed from 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583 to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association).

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: MAP2K1 was added gene: MAP2K1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583 Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; syndromic HCM; ?Noonan syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome