This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Noonan syndrome
- Cardiofaciocutaneous syndrome 4, 615280
- OMIM
- 601263
- Clinvar variants
- Variants in MAP2K2
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
23 May 2017, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for MAP2K2 were set to Noonan syndrome; Cardiofaciocutaneous syndrome 4, 615280
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MAP2K2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: UKGTN
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MAP2K2 was created by ellenmcdonagh