1. Panels
  2. Cytopenia - NOT Fanconi anaemia
  3. TUBA4A
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenia - NOT Fanconi anaemia

Gene: TUBA4A

Amber List (moderate evidence)
TUBA4A (tubulin alpha 4a)
EnsemblGeneIds (GRCh38): ENSG00000127824
EnsemblGeneIds (GRCh37): ENSG00000127824
OMIM: 191110, Gene2Phenotype
TUBA4A is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Carl Fratter on Bleeding and platelet disorders panel (https://panelapp.genomicsengland.co.uk/panels/545/gene/TUBA4A/) there is only one published human case of macrothrombocytopenia and functional evidence from mouse model reported in association with variants in TUBA4A gene. This gene has been classified with 'Limited' rating by the Hemostasis Thrombosis expert panel in ClinGen. This gene can therefore be rated amber with the current evidence.
Created: 19 May 2026, 1:33 p.m. | Last Modified: 19 May 2026, 1:33 p.m.
Panel Version: 5.2
Screening for TUBA4A variants in individuals presenting with low platelet counts identified one individual with a monoallelic c.541G>A and c.547G>C double substitution in TUBA4A (p.Val181Met and p.Glu183Gln). In addition, a missense variant in Tuba4a gene causes macrothrombocytopenia and abnormal marginal band formation in mice (PMID:30760556)
Created: 11 Mar 2024, 10:49 a.m. | Last Modified: 11 Mar 2024, 10:49 a.m.
Panel Version: 3.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant macrothrombocytopenia, MONDO:0015372

Publications

Created: 11 Mar 2024, 10:49 a.m.
Last Modified: 11 Mar 2024, 10:49 a.m.
Panel version: 5.2

Hannah Knight (NIHR BioResource - University of Cambridge)

Red List (low evidence)

Linked to thrombocytopenia (PMID: 30760556, 2019) - only one patient reported
Sources: Literature
Created: 22 Nov 2023, 3:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia

Publications

Created: 22 Nov 2023, 3:38 p.m.

Panel version: 3.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • autosomal dominant macrothrombocytopenia, MONDO:0015372
OMIM
191110
Clinvar variants
Variants in TUBA4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: tuba4a has been classified as Amber List (Moderate Evidence).

11 Mar 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TUBA4A were changed from Thrombocytopenia to autosomal dominant macrothrombocytopenia, MONDO:0015372

11 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: tuba4a has been classified as Red List (Low Evidence).

22 Nov 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: TUBA4A was added gene: TUBA4A was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA4A were set to 30760556 Phenotypes for gene: TUBA4A were set to Thrombocytopenia Review for gene: TUBA4A was set to RED