Gene Symbol:
TCF12
HGNC:11623
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q21.3
Filters:

ClinGen classifications

TCF12-related craniosynostosis
AD
01/28/2021
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

TCF12-related craniosynostosis
Submitted as: OMIM:615314
AD
02/13/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

hypogonadotropic hypogonadism 26 with or without anosmia
Submitted as: OMIM:619718
AD
01/26/2022
Evaluated
11/30/2023
Submitted
TCF12-related craniosynostosis
Submitted as: OMIM:615314
AD
03/16/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

isolated plagiocephaly
Submitted as: Orphanet:35098
AD
09/14/2021
Evaluated
09/14/2021
Submitted
isolated brachycephaly
Submitted as: Orphanet:35099
AD
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

TCF12-related craniosynostosis
Submitted as: OMIM:615314
AD
10/08/2020
Evaluated
11/09/2020
Submitted

Franklin by Genoox classifications

AR
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: 13 families with an anosmic form of IGD (Kallmann syndrome) were found to carry loss-of-function mut... Read more
AD
10/01/2020
Evaluated
01/19/2021
Submitted
Franklin by Genoox
Evidence: 13 families with an anosmic form of IGD (Kallmann syndrome) were found to carry loss-of-function mut... 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.