Hypertrophic cardiomyopathy - teen and adult

Gene: MAP2K2

Red List (low evidence)

MAP2K2 (mitogen-activated protein kinase kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 18 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiofaciocutaneous syndrome 4 (615280)
Created: 25 Mar 2019, 4:30 p.m.
30 DM variants on HGMD - mainly associated with cardio-facio-cutaneous syndrome.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MAP2K2. Mode of inheritance for gene MAP2K2 was changed from to Unknown

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAP2K2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list