RIT1

Gene Symbol:
RIT1
HGNC:10023
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q22
Filters:

Definitive classifications

AD
01/20/2025
Evaluated
07/02/2025
Submitted
AD
07/24/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

There is a definitive association between alteration of the RIT1 gene and the Noonan syndrome (NS... Read more

Strong classifications

Noonan syndrome 8
Submitted as: OMIM:615355
AD
10/07/2020
Evaluated
10/08/2020
Submitted
Noonan syndrome 8
Submitted as: OMIM:615355
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Noonan syndrome 8
Submitted as: OMIM:615355
AD
01/05/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Noonan syndrome
Submitted as: Orphanet:648
AD
09/14/2021
Evaluated
09/14/2021
Submitted

No Known Disease Relationship classifications

cardiofaciocutaneous syndrome
AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between RIT1 variants and CFC.

AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between RIT1 variants and CS.

Noonan syndrome-like disorder with loose anagen hair
AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between RIT1 variants and NS/LAH.

... Read more
Noonan syndrome with multiple lentigines
AD
04/30/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

No published evidence to date has implicated an association between RIT1 variants and NSML.

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