THPO

thrombopoietin
OMIM: 600044, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green THPO in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Thrombocythemia 1, MIM# 187950 Thrombocytopenia 9, MIM# 620478 Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Green THPO in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Green THPO in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocythemia 1, MIM# 187950 Thrombocytopenia 9, MIM# 620478
Red THPO in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Red UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Thrombocythemia 1 187950 (rare presentation with congenital limb defects)
Green THPO in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Expert list Phenotypes Thrombocytopenia progressing to trilineage bone marrow failure
Green THPO in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Thrombocythemia 1, MIM# 187950