Muscular dystrophy and myopathy_Paediatric
Gene: TTNEnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
3 reviews
Bryony Thompson (Royal Melbourne Hospital)
>4 cases reported with biallelic variants and congenital myopathy (e.g. centronuclear myopathy, cytoplasmic bodies). Digenic heterozygous TTN/SRPK3 variants are also reported with core myopathy.
Sources: LiteratureCreated: 1 Aug 2024, 12:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TTN-related myopathy MONDO:0100175
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants: more than 10 families reported.Created: 12 Aug 2022, 2:19 a.m. | Last Modified: 12 Aug 2022, 2:24 a.m.
Panel Version: 1.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salih myopathy, MIM# 611705
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert Review Green
- Phenotypes
-
- TTN-related myopathy MONDO:0100175
- Tags
- OMIM
- 188840
- Clinvar variants
- Variants in TTN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- 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
- Additional findings_Adult
- Arthrogryposis
- Dilated Cardiomyopathy
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ttn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ttn has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TTN was added gene: TTN was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature digenic tags were added to gene: TTN. Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 38429495; 38982518 Phenotypes for gene: TTN were set to TTN-related myopathy MONDO:0100175 Review for gene: TTN was set to GREEN gene: TTN was marked as current diagnostic