Muscular dystrophy and myopathy_Paediatric
Gene: TRDNEnsemblGeneIds (GRCh38): ENSG00000186439
EnsemblGeneIds (GRCh37): ENSG00000186439
OMIM: 603283, Gene2Phenotype
TRDN is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Congenital myopathy can be a feature of the conditionCreated: 5 Jun 2023, 6:01 a.m. | Last Modified: 5 Jun 2023, 6:01 a.m.
Panel Version: 0.200
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
- OMIM
- 603283
- Clinvar variants
- Variants in TRDN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Long QT Syndrome
- Additional findings_Adult
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Prepair 500+
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: trdn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: trdn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TRDN was added gene: TRDN was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRDN were set to 28202702; 30649896; 34415104 Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441