Paediatric or syndromic cardiomyopathy
Gene: RIT1EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 14 panels
4 reviews
Ivone Leong (Genomics England Curator)
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)
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
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)
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
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
-
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- Primary lymphoedema
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
- Monogenic short stature
- Hereditary neuropathy
- Fetal hydrops
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RIT1.
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
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