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  3. TUBA4A
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Fetal anomalies

Gene: TUBA4A

Red List (low evidence)
TUBA4A (tubulin alpha 4a)
EnsemblGeneIds (GRCh38): ENSG00000127824
EnsemblGeneIds (GRCh37): ENSG00000127824
OMIM: 191110, Gene2Phenotype
TUBA4A is in 8 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

first one of these is a preprint. 31 individuals from 19 families, 17 famlies with primary axial myopathy, two with cerebellar ataxia. Not clear that any would present prenatally, only 4/21 presented at birth. 2nd paper, two unrelated individuals, congenital onset but neither would have presented prenatally
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital myopathy 26, MONDO:0979229; Congenital myopathy 26, OMIM:621225

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Congenital myopathy 26, MONDO:0979229
  • Congenital myopathy 26, OMIM:621225
OMIM
191110
Clinvar variants
Variants in TUBA4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: TUBA4A was added gene: TUBA4A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA4A were set to 40666348; 38413182 Phenotypes for gene: TUBA4A were set to Congenital myopathy 26, MONDO:0979229; Congenital myopathy 26, OMIM:621225