RASopathies
Gene: MAP2K1Comment on publications: PMID: 23321623 (publication referring to Noonan syndrome association).Created: 8 Oct 2020, 10:34 a.m. | Last Modified: 8 Oct 2020, 10:34 a.m.
Panel Version: 1.66
Comment on mode of pathogenicity: Activating mutation consequence in G2P. Reviewer Comments: Gain of function mutations in MAP2K1 are responsible for up to 20% of cases of CFC. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 10:31 a.m. Gain of function mutations in MAP2K1 cause Cardio-Facio-cutanenous syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. No reports of mutations in MAP2K1 causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 2:55 p.m. Gain of function mutations predicted to be associated with Noonan syndrome in fetuses with abnormal ultrasound findings (see PMID). Possible rare cause of Noonan syndrome; more commonly associated with Cardio-Facio-Cutaenous syndrome and LEOPARD syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:01 p.m.Created: 5 Feb 2016, 8:55 a.m.
Comment on mode of inheritance: Confirmed on G2P, and not on imprinted gene list.Created: 5 Feb 2016, 8:48 a.m.
Comment on list classification: Confirmed DD gene for Cardiofaciocutaneous syndrome.Created: 5 Feb 2016, 8:48 a.m.
Gain of function mutationsCreated: 1 Feb 2016, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardio-Facio-Cutaneous syndrome; LEOPARD 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
Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; ?Noonan syndrome to Cardiofaciocutaneous syndrome 3, 615279; LEOPARD syndrome; ?Noonan syndrome
Publications for gene: MAP2K1 were set to 21396583; 23321623 (publication referring to Noonan syndrome association).
Publications for gene: MAP2K1 were set to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association).
Phenotypes for MAP2K1 were set to Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; ?Noonan syndrome
This gene has been classified as Green List (High Evidence).
Phenotypes for MAP2K1 were set to Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome; ?Noonan syndrome
Publications for MAP2K1 were set to PMID: 21396583; 23321623 (publication referring to Noonan syndrome association).
Phenotypes for MAP2K1 were set to Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome
Publications for MAP2K1 were set to PMID: 21396583
Mode of pathogenicity for MAP2K1 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 MAP2K1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for gene MAP2K1 were set to Cardiofaciocutaneous syndrome 3; Cardiofaciocutaneous Syndrome;Noonan Spectrum Disorders;Cardio-facio-cutaneous syndrome;Noonan syndrome;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;LEOPARD syndrome
MAP2K1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN
MAP2K1All sources for gene: MAP2K1 were removed
MAP2K1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
MAP2K1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
MAP2K1 was added to RASopathiespanel. Source: UKGTN
MAP2K1 was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Eligibility statement prior genetic testing
MAP2K1 was created by ellenmcdonagh