Gene Symbol:
TBX4
HGNC:11603
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q23.2
Filters:

ClinGen classifications

pulmonary arterial hypertension
AD
03/10/2021
Evaluated
04/21/2024
Submitted

Invitae classifications

coxopodopatellar syndrome
Submitted as: OMIM:147891
AD
08/30/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

coxopodopatellar syndrome
Submitted as: Orphanet:1509
AD
09/14/2021
Evaluated
09/14/2021
Submitted
heritable pulmonary arterial hypertension
Submitted as: Orphanet:275777
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

coxopodopatellar syndrome
Submitted as: OMIM:147891
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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