Neurofibromatosis Type 1
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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Only one case reportCreated: 14 Nov 2016, 9:37 a.m.
Only one case report. Not listed as causative on OMIM/UKGTN/Emory/RabdoudCreated: 14 Nov 2016, 9:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
- OMIM
- 176872
- Clinvar variants
- Variants in MAP2K1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
14 Nov 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
14 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
14 Nov 2016, Gel status: 0
Added New Source
Alice Gardham (Genomics England)MAP2K1 was added to Neurofibromatosis Type 1panel. Sources: Literature
14 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)MAP2K1 was created by agardham