Genomics England

TBX4

T-box 4

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood interstitial lung disease R-numbers: R462 Signed-off version 1.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes autosomal recessive amelia, MONDO:0011054, Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891, Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360, congenital alveolar dysplasia due to TBX4, MONDO:0100097
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SMALL PATELLA SYNDROME 147891
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	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 8.0	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 4.0	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 9.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891