Hereditary neuropathy
Gene: MAP2K1EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 19 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- 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
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: MAP2K1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MAP2K1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MAP2K1.
Added New Source
Ellen McDonagh (Genomics England Curator)MAP2K1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory