Congenital myopathy

Gene: TRDN

Amber List (moderate evidence)

TRDN (triadin)
EnsemblGeneIds (GRCh38): ENSG00000186439
EnsemblGeneIds (GRCh37): ENSG00000186439
OMIM: 603283, Gene2Phenotype
TRDN is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off.
Created: 4 Dec 2019, 1:15 p.m. | Last Modified: 4 Dec 2019, 1:15 p.m.
Panel Version: 1.210
gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive frameshift mutations, leading to loss of TRDN, were found to cause a skeletal myopathy in a subset of patients with triadin knockout syndrome.
Altmann HM, Tester DJ, Will ML, et al. : Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 2015;131(23):2051–60. 10.1161/CIRCULATIONAHA.115.015397
Engel AG, Redhage KR, Tester DJ, et al. : Congenital myopathy associated with the triadin knockout syndrome. Neurology. 2017;88(12):1153–6.
Sources: Expert list
Created: 4 Dec 2019, 1:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441
OMIM
603283
Clinvar variants
Variants in TRDN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TRDN.

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: trdn has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: TRDN was added gene: TRDN was added to Congenital myopathy. Sources: Expert list Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRDN were set to 25922419; 28202702 Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 Review for gene: TRDN was set to AMBER