Growth failure in early childhood

Gene: MAP2K2

Green List (high evidence)

MAP2K2 (mitogen-activated protein kinase kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 18 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.
Created: 30 May 2019, 9:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • CFC syndrome
  • Cardiofaciocutaneous syndrome 4
  • Cardiofaciocutaneous syndrome
  • Cardio-Facio-Cutaneous syndrome type 4
  • Cardiofaciocutaneous Syndrome
  • Cardio-Facio-Cutaneous syndrome
OMIM
601263
Clinvar variants
Variants in MAP2K2
Penetrance
None
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

18 Jun 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MAP2K2 were set to 16439621

30 May 2019, Gel status: 4

Set mode of pathogenicity, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome type 4; CFC syndrome for gene: MAP2K2

14 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MAP2K2 was added gene: MAP2K2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K2 were set to 16439621 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome