Cytopenia - NOT Fanconi anaemia
Gene: TUBA4A
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
Linked to thrombocytopenia (PMID: 30760556, 2019) - only one patient reported
Sources: LiteratureCreated: 22 Nov 2023, 3:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thrombocytopenia
Publications
Phenotypes for gene: TUBA4A were changed from Thrombocytopenia to autosomal dominant macrothrombocytopenia, MONDO:0015372
Gene: tuba4a has been classified as Red List (Low Evidence).
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