Rhabdomyolysis and Metabolic Myopathy
Gene: TTNEnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Monoallelic variants and Myopathy, myofibrillar, 9, with early respiratory failure, MIM# 603689: MODERATE by ClinGen, 17 probands reported including segregation data.Created: 12 Aug 2022, 2:21 a.m. | Last Modified: 12 Aug 2022, 2:21 a.m.
Panel Version: 0.130
Six families reported with tibial myopathy, including some segregation data.
This gene-disease association is also supported by biochemical and expression evidence supporting the role of TTN in affected tissues and a mouse model of the recurrent Finnish variant (NM_003319.4:c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys), often referred to as FINmaj).Created: 12 Aug 2022, 2:11 a.m. | Last Modified: 12 Aug 2022, 2:22 a.m.
Panel Version: 0.130
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tibial muscular dystrophy, tardive, MIM# 600334; Myopathy, myofibrillar, 9, with early respiratory failure, MIM# 603689
Publications
Crystle Lee (Victorian Clinical Genetics Services)
Salih myopathy (also known as early-Onset myopathy with fatal cardiomyopathy) is associated with early onset myopathy.
PMID: 17444505: 2 families reported presenting with congenital onset of muscle weakness and childhood onset DCM
PMID: 23975875: Reported 5 patients with biallellic truncating variants with supporting functional studies. All reported with early onset myopathy
Sources: Expert ReviewCreated: 15 Jun 2020, 1:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salih myopathy (MIM#611705)
Publications
Bryony Thompson (Royal Melbourne Hospital)
Exercise intolerance only reported in two cases.
Sources: Expert listCreated: 29 May 2020, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital titinopathy; exercise intolerance
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Red
- Expert list
- Phenotypes
-
- Congenital titinopathy
- exercise intolerance
- OMIM
- 188840
- Clinvar variants
- Variants in TTN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Adult
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Dilated Cardiomyopathy
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttn has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TTN was added gene: TTN was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 31353864 Phenotypes for gene: TTN were set to Congenital titinopathy; exercise intolerance Review for gene: TTN was set to RED