TBX4:Ensemblv115

T-box transcription factor 4
OMIM: 601719, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TBX4 in Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list Expert Review Green Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891 Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
Green TBX4 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list Expert list Victorian Clinical Genetics Services Expert Review Green Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891 Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
Green TBX4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Expert list NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Ischiocoxopodopatellar syndrome 147891 Ischiocoxopodopatellar syndrome 147891
Green TBX4 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891
Green TBX4 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891