Genomics England
GMS Panels
Panels
Genes and Entities

TBX4

T-box 4
OMIM: 601719
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SMALL PATELLA SYNDROME 147891
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Green
in Pulmonary arterial hypertension
R-numbers: R188
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891