Limb girdle muscular dystrophy

Gene: TNPO3

Green List (high evidence)

TNPO3 (transportin 3)
EnsemblGeneIds (GRCh38): ENSG00000064419
EnsemblGeneIds (GRCh37): ENSG00000064419
OMIM: 610032, Gene2Phenotype
TNPO3 is in 1 panel

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Based on expert review from Chiara Marini Bettolo (NUTH), this gene has been promoted from Red to Green.
Created: 28 Nov 2019, 4:06 p.m. | Last Modified: 28 Nov 2019, 4:06 p.m.
Panel Version: 1.106

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

new gene added. Known form of LGMD (LGMD1F or LGMD D2)
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Louise Daugherty (Genomics England Curator)

I don't know

New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Created: 21 Oct 2019, 10:56 a.m.

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
OMIM
610032
Clinvar variants
Variants in TNPO3
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: tnpo3 has been classified as Red List (Low Evidence).

21 Oct 2019, Gel status: 1

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TNPO3. Source Yorkshire and North East GLH was added to TNPO3.

21 Oct 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: TNPO3 was added gene: TNPO3 was added to Limb girdle muscular dystrophy. Sources: Expert Review 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 Review for gene: TNPO3 was set to AMBER