TUBB1

tubulin beta 1 class VI
OMIM: 612901, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TUBB1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	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 1.118	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 Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Thyroid disorders Level 2: Endocrine disorders Version 2.18 Latest signed off version: v2.2 (25 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber East of England GLH Phenotypes Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets
Green TUBB1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112