Distal myopathies
Gene: TTNEnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:25 p.m. | Last Modified: 3 Aug 2022, 3:25 p.m.
Panel Version: 1.48
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:52 a.m. | Last Modified: 9 Mar 2022, 11:52 a.m.
Panel Version: 1.41
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: this is a v large gene, and very polymorphic, but definitely a distal myopathy geneCreated: 20 Feb 2017, 5:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tibial muscular dystrophy, tardive, 600334
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Tibial muscular dystrophy, tardive, 600334
- OMIM
- 188840
- Clinvar variants
- Variants in TTN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Paediatric disorders - additional genes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Arrhythmogenic right ventricular cardiomyopathy
- Intellectual disability
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene TTN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Set Phenotypes
Arianna Tucci (Genomics England Curator)Phenotypes for TTN were set to Tibial muscular dystrophy, tardive, 600334
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for TTN were set to 12145747
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)TTN was added to Distal myopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services