Monogenic short stature
Gene: RIT1EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 14 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 8; 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
- Phenotypes
-
- Noonan syndrome 8, OMIM:615355
- OMIM
- 609591
- Clinvar variants
- Variants in RIT1
- Penetrance
- None
- 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
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Primary lymphoedema
- Intellectual disability
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)gene: RIT1 was added gene: RIT1 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIT1 were set to 23791108; 25124994; 24939608 Phenotypes for gene: RIT1 were set to Noonan syndrome 8, OMIM:615355 Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments