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Molecular autopsy

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 19 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • Expert Review Green
Phenotypes
  • syndromic HCM
  • LEOPARD syndrome
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 3
  • ?Noonan 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

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to MAP2K1.

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MAP2K1 was added gene: MAP2K1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association). Phenotypes for gene: MAP2K1 were set to syndromic HCM; LEOPARD syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments