Limb disorders
Gene: TBX4Comment on mode of inheritance: Changing to imprinted status unknown as per the reviewer selection.Created: 4 Dec 2018, 11:35 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 1 Aug 2016, 8:08 a.m.
Tier 2Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome 147891
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome 147891 to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Ana Beleza: Tier 2
Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome to Ischiocoxopodopatellar syndrome 147891
Mode of inheritance for gene: TBX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Green was added to TBX4. Panel: Limb disorders UKGTN was added to TBX4. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to TBX4. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to TBX4. Panel: Limb disorders Expert list was added to TBX4. Panel: Limb disorders Model of inheritance for gene TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to TBX4. Panel: Limb disorders
TBX4 was added to Limb disorders panel. Sources: Viapath
TBX4 was created by Ellen McDonagh