RASopathies
Gene: MAP2K2Comment 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.
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
Publications for gene: MAP2K2 were set to PMID: 21396583; 23379592
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
This gene has been classified as Green List (High Evidence).
Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome type 4 ; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome
Publications for MAP2K2 were set to PMID: 21396583; 23379592
This gene has been classified as Green List (High Evidence).
Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome
Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC
Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome
Phenotypes for MAP2K2 were set to Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous Syndrome; Cardio-facio-cutaneous syndrome
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
Mode of inheritance for MAP2K2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
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
MAP2K2 was added to RASopathiespanel. Sources: Eligibility statement prior genetic testing,Emory Genetics Laboratory,UKGTN
MAP2K2All sources for gene: MAP2K2 were removed
MAP2K2 was added to RASopathiespanel. Source: UKGTN
MAP2K2 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Eligibility statement prior genetic testing
MAP2K2 was created by ellenmcdonagh