|

AUCD Community Inclusion

AUCD’s Community Inclusion Team supports the University Centers for Excellence in Developmental Disabilities (UCEDD) Network in partnership with the Administration for Community Living.

Learn More
|

AUCD Maternal and Child Health Engagement

AUCD’s Maternal and Child Health Engagement supports the Autism CARES Programs, including LEND and DBP Programs.

Learn More
|

AUCD Public Health

AUCD’s Public Health Team works to create health promotion and public health efforts that include people with disabilities.

Learn More
|

AUCD Emerging Leaders Community

AUCD Emerging Leaders are a part of a community that includes trainees, early career professionals, self-advocates, and family members from AUCD member Centers and Programs.

Learn More

Donate

Product

Journal: Clinical variants paired with phenotype: A rich resource for brain gene curation0

Center:

CA-UC Davis at the MIND Institute, UCEDD/LEND

Fiscal Year:

2024

Contact Information:

Leonard Abbeduto
[email protected]
916-606-3560

Product Description:

We established the Brain Gene Registry (BGR) to coregister clinically identified variants in putative brain genes with participant phenotypes. Here, we report 179 genetic variants in the first 179 BGR registrants and analyze the proportion that were novel to ClinVar at the time of entry and those that were absent in other disease databases.

Keyword(s):

Brain gene curation

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

To Obtain Copies (URL or Email):

https://doi.org/10.1016/j.gim.2023.101035

COVID-19 Related Data:

N/A

1100 Wayne Avenue, Suite 1000 Silver Spring, MD 20910