TUBB1

tubulin beta 1 class VI
OMIM: 612901, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TUBB1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112
Green TUBB1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112 MONDO:0013141
Green TUBB1 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112 Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
Green TUBB1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Congenital hypothyroidism, MONDO:0018612, TUBB1-related Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112 Tags treatable endocrine
Green TUBB1 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 Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112