Gene Symbol:
DLL1
HGNC:2908
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6q27
Filters:

Definitive classifications

neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Submitted as: OMIM:618709
AD
02/15/2024
Evaluated
01/17/2025
Submitted

Strong classifications

neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Submitted as: OMIM:618709
AD
02/26/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Submitted as: OMIM:618709
AD
04/15/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more
neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Submitted as: OMIM:618709
AD
03/14/2025
Evaluated
07/02/2025
Submitted

Supportive classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.