This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Noonan Syndrome
- Cardiofaciocutaneous syndrome 3, 615279
- OMIM
- 176872
- Clinvar variants
- Variants in MAP2K1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Neurofibromatosis Type 1
- Fetal hydrops
- Fetal anomalies
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Monogenic short stature
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
History Filter Activity
23 May 2017, Gel status: 3
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for MAP2K1 were set to Noonan Syndrome; Cardiofaciocutaneous syndrome 3, 615279
10 Dec 2015, Gel status: 3
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene MAP2K1 were set to Noonan Syndrome
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)MAP2K1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MAP2K1 was created by ellenmcdonagh