Cytopenias and congenital anaemias
Gene: TUBB1

TUBB1 (tubulin beta 1 class VI)
EnsemblGeneIds (GRCh38): ENSG00000101162
EnsemblGeneIds (GRCh37): ENSG00000101162
OMIM: 612901, Gene2Phenotype
TUBB1 is in 5 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

The phenotype is not relevant for this panel as is macrothrombocytopenia. Only one family described with the mutation.
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrothrombocytopenia, autosomal dominant, TUBB1-related 613112

Publications

Created: 9 Mar 2017, 4:32 p.m.

Panel version: 0.522

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112

OMIM

612901

Clinvar variants

Variants in TUBB1

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

TUBB1 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TUBB1 was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source