Hypertrophic cardiomyopathy
Gene: MAP2K2
MAP2K2 (mitogen-activated protein kinase kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 17 panels
2 reviews
Rebecca Whittington (South West GLH)
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
Unknown
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 601263
- Clinvar variants
- Variants in MAP2K2
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Monogenic short stature
- Primary lymphoedema
- Fetal hydrops
- DDG2P
- Hypertrophic cardiomyopathy
- Intellectual disability
- Early onset or syndromic epilepsy
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
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