Paediatric or syndromic cardiomyopathy
Gene: RIT1
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
Noonan syndrome 8 OMIM#615355Created: 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
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.
Gain of functionCreated: 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
Source NHS GMS was added to RIT1.
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
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