RASopathies
Gene: RIT1EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Helen Savage (Congenica Ltd)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Noonan syndrome 8 615355
- OMIM
- 609591
- Clinvar variants
- Variants in RIT1
- 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
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Primary lymphoedema
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: RIT1 were set to PMID: 23791108; 25124994; 24939608
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: RIT1 were changed from Noonan syndrome 8; Noonan syndrome type 8 to Noonan syndrome 8 615355
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 RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RIT1 were set to Noonan syndrome 8
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RIT1 were set to PMID: 23791108; 25124994; 24939608
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RIT1 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).
Created
Ellen McDonagh (Genomics England Curator)RIT1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RIT1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen