RASopathies
Gene: MAP2K2EnsemblGeneIds (GRCh38): ENSG00000126934
EnsemblGeneIds (GRCh37): ENSG00000126934
OMIM: 601263, Gene2Phenotype
MAP2K2 is in 17 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Consequence of mutations in G2P is activating. Comments from Reviewer: Gain of function mutations and deletions of MAP2K2 have been reported to cause CFC. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 10:33 a.m. Gain of function mutations in MAP2K2 cause Cardio-Facio-cutanenous syndrome. This disorder share phenotypes with Legius syndrome. No reports of mutations in MAP2K2 causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 3:02 p.m.
Gain of function mutations and deletions of MAP2K2 have been reported to cause Cardio-Facio-Cutaneous syndrome. No strong association with Noonan syndrome or other other 'RASopathies'. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 4:15 p.m.
Gain of function mutations and large deletions - Helen Savage (Congenica Ltd), Jan. 27, 2016, 3:19 p.m.Created: 5 Feb 2016, 9:06 a.m.
Comment on mode of inheritance: Confirmed in G2P, and not on imprinted gene list.Created: 5 Feb 2016, 9 a.m.
Comment on list classification: Confirmed DD gene for Cardiofaciocutaneous syndrome.Created: 5 Feb 2016, 8:59 a.m.
Helen Savage (Congenica Ltd)
Gain of function mutationsCreated: 1 Feb 2016, 10:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardio-Facio-Cutaneous syndrome
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
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Cardiofaciocutaneous syndrome 4 615280
- 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
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MAP2K2 were set to PMID: 21396583; 23379592
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome to Cardiofaciocutaneous syndrome 4 615280
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome type 4 ; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MAP2K2 were set to PMID: 21396583; 23379592
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-facio-cutaneous syndrome
Set mode of pathogenicity
Ellen McDonagh (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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MAP2K2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome;Noonan Spectrum Disorders;Cardio-facio-cutaneous syndrome;Noonan syndrome;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;LEOPARD syndrome
Upload gene information
Ellen McDonagh (Genomics England Curator)MAP2K2 was added to RASopathiespanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,UKGTN
clearsources
Ellen McDonagh (Genomics England Curator)MAP2K2All sources for gene: MAP2K2 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)MAP2K2 was added to RASopathiespanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MAP2K2 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)MAP2K2 was created by ellenmcdonagh