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  3. TUBA4A
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Congenital myopathy

Gene: TUBA4A

No list
TUBA4A (tubulin alpha 4a)
EnsemblGeneIds (GRCh38): ENSG00000127824
EnsemblGeneIds (GRCh37): ENSG00000127824
OMIM: 191110, Gene2Phenotype
TUBA4A is in 6 panels

1 review

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

novel heterozygous de novo c.679C>T (p.L227F) variant in theTUBA4A(NM_006000), encoding tubulin alpha-4A, in two unrelated patients with clinicopathologically diagnosed sporadic congenital myopathy. The prominent myopathological changes in both patients were muscle fibres with focal myofibrillar disorganisation and rimmed vacuoles. Immunofluorescence showed ubiquitin-positive TUBA4A protein aggregates in the muscle fibres with rimmed vacuoles.
Created: 27 May 2026, 9:42 a.m. | Last Modified: 27 May 2026, 9:42 a.m.
Panel Version: 7.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 27 May 2026, 9:42 a.m.
Last Modified: 27 May 2026, 9:42 a.m.
Panel version: 7.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • NHS GMS
OMIM
191110
Clinvar variants
Variants in TUBA4A
Penetrance
None
Panels with this gene

History Filter Activity

27 May 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tuba4a has been removed from the panel.

27 May 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: TUBA4A was added gene: TUBA4A was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted