Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Update GNB1-related disorder #8383

Open
wants to merge 1 commit into
base: master
Choose a base branch
from
Open

Update GNB1-related disorder #8383

wants to merge 1 commit into from

Conversation

yshwetar
Copy link
Collaborator

Closes #8167

Copy link
Collaborator

@sabrinatoro sabrinatoro left a comment

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@yshwetar : I don't know that this is correct.
According to OMIM:139380, a variation in the GNB1 gene can lead to multiple diseases, including, but not limited to 'intellectual disability, autosomal dominant 42'. Therefore this synonym should not be exact. However, the other involvement of the GNB1 genes are for somatic mutation in cancer.
Let's confirm with the requester.

@sabrinatoro sabrinatoro added blocked Something needs to be done before work can proceed curateathon2024 labels Nov 14, 2024
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
blocked Something needs to be done before work can proceed curateathon2024
Projects
None yet
Development

Successfully merging this pull request may close these issues.

GNB1-Related Disorder
2 participants