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Cardiomyopathies - including childhood onset

Gene: RIT1

Green List (high evidence)

RIT1 (Ras like without CAAX 1)
EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 15 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

I don't know

Noonan syndrome 8 OMIM#615355
Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene, syndromic AD. https://omim.org/clinicalSynopsis/615355?highlight=rit1. Features at birth - HCM can be a feature. Kouz (2016) Genet Med 18: 1226 PubMed: 27101134 .
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Comment from Reviewer: Gain of function mutations in RIT1 cause Noonan syndrome. These mutations tend to cluster in the switch II region of the gene. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 4:19 p.m.
Created: 5 Feb 2016, 9:36 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on the imprinted gene list.
Created: 5 Feb 2016, 9:36 a.m.
Comment on list classification: Confirmed DD gene for Noonan syndrome 8.
Created: 5 Feb 2016, 9:35 a.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function
Created: 1 Feb 2016, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
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
  • NHS GMS
  • Expert List
  • South West GLH
  • London South GLH
  • Expert Review Green
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

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RIT1.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

Source Expert List was added to RIT1. Mode of pathogenicity for gene RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome 8 615355 for gene: RIT1 Publications for gene RIT1 were changed from 24939608; PMID: 23791108; 25124994 to 25124994; 23791108; 24939608

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: RIT1 was added gene: RIT1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,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 24939608; PMID: 23791108; 25124994 Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8