SOS1

Gene Symbol:
SOS1
HGNC:11187
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p22.1
Filters:

Definitive classifications

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

There is a definitive association between alteration of the SOS1 gene and the Noonan syndrome (NS... Read more

Noonan syndrome 4
Submitted as: OMIM:610733
AD
01/27/2025
Evaluated
07/02/2025
Submitted

Strong classifications

Noonan syndrome 4
Submitted as: OMIM:610733
AD
10/07/2020
Evaluated
10/08/2020
Submitted
Noonan syndrome 4
Submitted as: OMIM:610733
AD
01/17/2025
Evaluated
12/15/2025
Submitted
fibromatosis, gingival, 1
Submitted as: OMIM:135300
AD
11/16/2020
Evaluated
11/30/2023
Submitted
Noonan syndrome 4
Submitted as: OMIM:610733
AD
09/29/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

Noonan syndrome
Submitted as: Orphanet:648
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hereditary gingival fibromatosis
Submitted as: Orphanet:2024
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

cardiofaciocutaneous syndrome
AD
06/01/2018
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

There have been few patients presenting with a clinical suspicion of cardiofaciocutaneous syndrom... Read more

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

Only one case has been identified that had Costello syndrome-like features and a variant in the S... Read more

No Known Disease Relationship classifications

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 SOS1 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 SOS1 variants and NSML.

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