This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- OMIM
- 176872
- Clinvar variants
- Variants in MAP2K1
- Penetrance
- None
- Panels with this gene
-
- Primary lymphoedema
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
History Filter Activity
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: MAP2K1 was added gene: MAP2K1 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted