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  2. Congenital myopathy
  3. TNPO3
STRs in panel
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Congenital myopathy

Gene: TNPO3

No list
TNPO3 (transportin 3)
EnsemblGeneIds (GRCh38): ENSG00000064419
EnsemblGeneIds (GRCh37): ENSG00000064419
OMIM: 610032, Gene2Phenotype
TNPO3 is in 2 panels

1 review

Anna Sarkozy (Great Ormond Street Hospital)

I don't know

associated with Dominant LGMD, in some cases this can have early/juvenile onset . This gene is green in LGMD panel
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

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
610032
Clinvar variants
Variants in TNPO3
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: tnpo3 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: TNPO3 was added gene: TNPO3 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted