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  2. Cytopenia - NOT Fanconi anaemia
  3. TUBA4A
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Cytopenia - NOT Fanconi anaemia

Gene: TUBA4A

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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: 3.24

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 Red
Phenotypes
  • autosomal dominant macrothrombocytopenia, MONDO:0015372
OMIM
191110
Clinvar variants
Variants in TUBA4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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