Hypertrophic cardiomyopathy
Gene: MAP2K1
MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels
2 reviews
Rebecca Whittington (South West GLH)
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
Unknown
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 176872
- Clinvar variants
- Variants in MAP2K1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Fetal hydrops
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
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