Childhood solid tumours cancer susceptibility

Gene: MAP2K1

Green List (high evidence)

MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Loss of function variants should not be reported back in this gene for this panel (confirmed with Clare Turnbull).
Created: 30 Jan 2018, 11:38 a.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Kinase. Rasopathy.
Created: 5 Jul 2017, 11:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiofaciocutaneous syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiofaciocutaneous syndrome
OMIM
176872
Clinvar variants
Variants in MAP2K1
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Clare Turnbull: Kinase. Rasopathy.

30 Jan 2018, Gel status: 3

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for MAP2K1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

5 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MAP2K1 was added to Childhood solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAP2K1 was added to Childhood solid tumourspanel. Sources: Expert list

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MAP2K1 was created by ellenmcdonagh