IUGR and IGF abnormalities
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
1 review
emma baple (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rasopathy
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Rasopathy
- OMIM
- 609591
- Clinvar variants
- Variants in RIT1
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Intellectual disability
- DDG2P
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Pigmentary skin disorders
- Hereditary neuropathy
- Fetal hydrops
- Primary lymphoedema
- Hereditary neuropathy or pain disorder
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 0
Added New Source
emma baple (Genomics England Curator)RIT1 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Apr 2016, Gel status: 0
Created
emma baple (Genomics England Curator)RIT1 was created by ebapleC