RASopathies
Gene: RIT1Comment on mode of pathogenicity: Comment from Reviewer: Gain of function mutations in RIT1 cause Noonan syndrome. These mutations tend to cluster in the switch II region of the gene. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 4:19 p.m.Created: 5 Feb 2016, 9:36 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on the imprinted gene list.Created: 5 Feb 2016, 9:36 a.m.
Comment on list classification: Confirmed DD gene for Noonan syndrome 8.Created: 5 Feb 2016, 9:35 a.m.
Gain of functionCreated: 1 Feb 2016, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome type 8
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
Publications for gene: RIT1 were set to PMID: 23791108; 25124994; 24939608
Phenotypes for gene: RIT1 were changed from Noonan syndrome 8; Noonan syndrome type 8 to Noonan syndrome 8 615355
This gene has been classified as Green List (High Evidence).
Phenotypes for RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8
Phenotypes for RIT1 were set to Noonan syndrome 8
Publications for RIT1 were set to PMID: 23791108; 25124994; 24939608
Mode of pathogenicity for RIT1 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 RIT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
RIT1 was created by ellenmcdonagh
RIT1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen