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

Definitive classifications

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

Strong classifications

TCF12-related craniosynostosis
Submitted as: OMIM:615314
AD
10/08/2020
Evaluated
11/09/2020
Submitted
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
TCF12-related craniosynostosis
Submitted as: OMIM:615314
AD
02/13/2020
Evaluated
03/31/2021
Submitted
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

Supportive 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

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