Additional findings_Adult
Gene: TTN
TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Included in ACMG V3.0 SF list, risk fo sudden death with preventative interventions available.
We note the difficulty in interpreting variants in this gene: truncating variants with previously established pathogenicity to be reported only.
Sources: Expert listCreated: 26 May 2021, 8:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1G, MIM# 604145
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cardiomyopathy, dilated, 1G, MIM# 604145
- 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
26 May 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttn has been classified as Green List (High Evidence).
26 May 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttn has been classified as Green List (High Evidence).
26 May 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTN was added gene: TTN was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to 34012068 Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM# 604145 Review for gene: TTN was set to GREEN