Fetal hydrops
Gene: MAP2K2EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 17 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on mode of pathogenicity: Consequence of mutations in G2P is activating.Created: 21 Dec 2016, 2:51 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Phenotypes
-
- Cardiofaciocutaneous syndrome 4
- Cardio-Facio-Cutaneous syndrome type 4
- Cardiofaciocutaneous Syndrome
- Cardio-Facio-Cutaneous syndrome
- CFC syndrome
- OMIM
- 601263
- Clinvar variants
- Variants in MAP2K2
- 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
-
- Hereditary neuropathy
- DDG2P
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for MAP2K2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Upload gene information
Rebecca Foulger (Genomics England curator)MAP2K2 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
Added New Source
Rebecca Foulger (Genomics England curator)MAP2K2 was added to Fetal hydropspanel. Sources: Expert Review Green
Created
Rebecca Foulger (Genomics England curator)MAP2K2 was created by rfoulger