Hypertrophic cardiomyopathy_HCM
Gene: RIT1EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Included as one of the recommended 29 HCM genes to test by the ClinGen HCVD GCEP due to syndromic LVH being a feature of the condition that can be mistaken for HCM
Sources: ClinGenCreated: 22 Aug 2024, 8:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome MONDO:0018997
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- ClinGen
- Phenotypes
-
- Noonan syndrome MONDO:0018997
- OMIM
- 609591
- Clinvar variants
- Variants in RIT1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rit1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rit1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: RIT1 was added gene: RIT1 was added to Hypertrophic cardiomyopathy_HCM. Sources: ClinGen Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIT1 were set to 39132495 Phenotypes for gene: RIT1 were set to Noonan syndrome MONDO:0018997 Mode of pathogenicity for gene: RIT1 was set to Other Review for gene: RIT1 was set to GREEN gene: RIT1 was marked as current diagnostic