Hypertrophic cardiomyopathy - teen and adult

Gene: MAP2K1

Red List (low evidence)

MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 20 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiofaciocutaneous syndrome 3 (615279)
Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene. Variants in HGMD associated with Cardio-facio-cutaneous syndrome, Noonan and Costello 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 MAP2K1. Mode of inheritance for gene MAP2K1 was changed from to Unknown

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAP2K1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list