This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: RIT1
RIT1 (Ras like without CAAX 1)
EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 14 panels
0 reviews
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Noonan syndrome 8, 615355
- OMIM
- 609591
- Clinvar variants
- Variants in RIT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary lymphoedema
- Hereditary neuropathy or pain disorder
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Intellectual disability
- DDG2P
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Hereditary neuropathy
- Fetal hydrops
- Fetal anomalies
History Filter Activity
11 May 2017, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RIT1 were set to Noonan syndrome 8, 615355
11 May 2017, Gel status: 1
Set publications
Rebecca Foulger (Genomics England curator)Publications for RIT1 were set to 26903185
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RIT1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RIT1 was created by ellenmcdonagh