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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. TNPO3
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: TNPO3

Green List (high evidence)
TNPO3 (transportin 3)
EnsemblGeneIds (GRCh38): ENSG00000064419
EnsemblGeneIds (GRCh37): ENSG00000064419
OMIM: 610032, Gene2Phenotype
TNPO3 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 individuals reported, three with extension variants.
Created: 7 Apr 2022, 4:15 a.m. | Last Modified: 7 Apr 2022, 4:15 a.m.
Panel Version: 0.12741

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muscular dystrophy, limb-girdle, autosomal dominant 2, MIM# 608423

Publications

Created: 7 Apr 2022, 4:15 a.m.
Last Modified: 7 Apr 2022, 4:15 a.m.
Panel version: Imported from Mendeliome panel version 0.12741

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Only a few variants reported to date (three extention variant and one missense)

PMID: 23543484 - extension variant (c.2771delA) possibly exerts a dominant toxic effect, interrupted nuclear localization
PMID: 31192305 - extension variant (c.2757delC) also demonstrated disruption of normal nuclear function and localization
PMID: 31071488 - extension variant (c.2767delC) w/o functional studies

PMID: 23667635 - reported a missense (p.R818Q - from mutalyzer) reported without functional study
Created: 23 Nov 2021, 12:13 a.m. | Last Modified: 23 Nov 2021, 12:13 a.m.
Panel Version: 0.59

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Limb-girdle muscular dystrophy 2 (MIM#608423

Publications

Mode of pathogenicity
Other

Created: 23 Nov 2021, 12:13 a.m.
Last Modified: 23 Nov 2021, 12:13 a.m.
Panel version: 0.59

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
OMIM
610032
Clinvar variants
Variants in TNPO3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

23 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnpo3 has been classified as Green List (High Evidence).

23 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNPO3 were set to

23 Nov 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TNPO3 was changed from to Other

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TNPO3 was added gene: TNPO3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423