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  2. Cardiomyopathy_Paediatric
  3. RIT1
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Cardiomyopathy_Paediatric

Gene: RIT1

Green List (high evidence)
RIT1 (Ras like without CAAX 1)
EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 12 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • NHS GMS
  • Expert Review Green
  • Expert List
  • London South GLH
Phenotypes
  • Noonan syndrome 8
  • Noonan syndrome type 8
  • Noonan syndrome 8 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

History Filter Activity

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RIT1 was added gene: RIT1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIT1 were set to 23791108; 24939608; 25124994 Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8; Noonan syndrome 8 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