Growth failure in early childhood
Gene: MAP2K2EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 17 panels
1 review
Rebecca Foulger (Genomics England curator)
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
-
- Expert Review Green
- Phenotypes
-
- Cardiofaciocutaneous syndrome 4, OMIM:615280
- 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
-
- Early onset or syndromic epilepsy
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MAP2K2 were changed from CFC syndrome; Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome to Cardiofaciocutaneous syndrome 4, OMIM:615280
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: MAP2K2 were set to 16439621
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
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