MED13L

Gene Symbol:
MED13L
HGNC:22962
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q24.21
Filters:

Cardiac anomalies - developmental delay - facial dysmorphism syndrome classifications

cardiac anomalies - developmental delay - facial dysmorphism syndrome
AD
02/14/2020
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The MED13L gene is located on chromosome 12 at 12q24.21 and encodes the mediator complex subunit 13L... Read more
cardiac anomalies - developmental delay - facial dysmorphism syndrome
Submitted as: Orphanet:369891
AD
09/14/2021
Evaluated
09/14/2021
Submitted
cardiac anomalies - developmental delay - facial dysmorphism syndrome
Submitted as: OMIM:616789
AD
12/03/2022
Evaluated
11/30/2023
Submitted
cardiac anomalies - developmental delay - facial dysmorphism syndrome
Submitted as: OMIM:616789
AD
01/16/2025
Evaluated
07/02/2025
Submitted

Congenital heart disease classifications

congenital heart disease
AD
02/12/2024
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

MED13L was first reported in relation to autosomal dominant congenital heart disease in... Read more

Syndromic intellectual disability classifications

syndromic intellectual disability
AD
04/21/2021
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

Intragenic deletions in MED13L were first reported in patients with syndromic intellectual disabi... Read more

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.