Cytopenia - NOT Fanconi anaemia

Gene: TUBB1

Amber List (moderate evidence)

TUBB1 (tubulin beta 1 class VI)
EnsemblGeneIds (GRCh38): ENSG00000101162
EnsemblGeneIds (GRCh37): ENSG00000101162
OMIM: 612901, Gene2Phenotype
TUBB1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Macrothrombocytopenia, beta-tubulin 1 related; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted;London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TUBB1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613112 Macrothrombocytopenia; PMID(s): 18849486
Created: 8 Feb 2019, 1:43 p.m.

Frances Smith (King's College Hospital)

Red List (low evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
613112 Macrothrombocytopenia

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
612901
Clinvar variants
Variants in TUBB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TUBB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Amber was added to TUBB1.

4 Nov 2019, Gel status: 1

Added New Source, Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to TUBB1. Source Yorkshire and North East GLH was added to TUBB1. Source North West GLH was added to TUBB1.

4 Nov 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TUBB1 were changed from 613112 Macrothrombocytopenia to Macrothrombocytopenia, 613112

29 May 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tubb1 has been classified as Red List (Low Evidence).

29 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tubb1 has been classified as Amber List (Moderate Evidence).

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to TUBB1.

8 Feb 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1 Publications for gene TUBB1 were changed from to 18849486

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TUBB1.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TUBB1 was added gene: TUBB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: TUBB1 was set to