RASopathies
Gene: RAF1Comment on mode of pathogenicity: Activating mutations are indicated in G2P as mutation consequence for noonan syndrome. Comments from reviewer:
Gain of function mutations in RAF1 are reported to cause up to 3% of cases of LEOPARD syndrome. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 11:27 a.m.
Gain of function mutations in RAF1 cause Noonan syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. Mutations in RAF1 have not been reported to cause Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:50 a.m.
Gain of function mutations in RAF1 cause ~10% of Noonan syndrome cases and ~1% of LEOPARD syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:20 p.m.
Created: 5 Feb 2016, 12:41 p.m.
Comment on mode of inheritance: Confirmed on G2P, and checked imprinted gene list.Created: 5 Feb 2016, 8:15 a.m.
Gain of function mutationsCreated: 1 Feb 2016, 10:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan 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
Publications for gene: RAF1 were set to PMID: 17603483; 17603482
Phenotypes for gene: RAF1 were changed from Noonan syndrome; Noonan syndrome 5; LEOPARD syndrome; LEOPARD syndrome 2 to LEOPARD syndrome 2 611554; Noonan syndrome 5 611553
Phenotypes for RAF1 were set to Noonan syndrome; Noonan syndrome 5; LEOPARD syndrome; LEOPARD syndrome 2
This gene has been classified as Green List (High Evidence).
Phenotypes for RAF1 were set to Noonan syndrome; LEOPARD syndrome; Noonan syndrome 5; Noonan Spectrum Disorders
Phenotypes for RAF1 were set to Noonan syndrome; LEOPARD syndrome; Noonan syndrome 5
Publications for RAF1 were set to PMID: 17603483; 17603482
Publications for RAF1 were set to PMID: 17603483
Mode of pathogenicity for RAF1 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 RAF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
RAF1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN
RAF1All sources for gene: RAF1 were removed
Phenotypes for gene RAF1 were set to Noonan syndrome;Noonan syndrome 5, ;Noonan syndrome 5; Noonan Spectrum Disorders;LEOPARD syndrome 2, ;Noonan Spectrum Disorders;Noonan syndrome plus other features;LEOPARD syndrome;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome
RAF1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Eligibility statement prior genetic testing
RAF1All sources for gene: RAF1 were removed
RAF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
RAF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services RAF1 was added to RASopathiespanel. Source: Emory Genetics Laboratory
RAF1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
RAF1 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
RAF1 was created by ellenmcdonagh