TUBB1

tubulin beta 1 class VI
OMIM: 612901, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TUBB1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green BRIDGE consortium (NIHRBR-RD) Phenotypes Macrothrombocytopenia, Beta-tubulin 1 related
Red TUBB1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112
Green TUBB1 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 613112 Macrothrombocytopenia, autosomal dominant, TUBB1-related
Amber TUBB1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert review Amber North West GLH Yorkshire and North East GLH Wessex and West Midlands GLH NHS GMS London South GLH Phenotypes Macrothrombocytopenia, 613112
Amber TUBB1 in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber East of England GLH Phenotypes Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets