Congenital muscular dystrophy and congenital myopathy
Gene: TTNEnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Cause of congenital myopathy (preceding cardiomyopathy) in >4 families in association with recessive truncating mutationsCreated: 6 Feb 2017, 9:14 a.m.
Comment on phenotypes: This is the only phenotype considered appropriate for the congenital myopathy panel.Created: 6 Feb 2017, 9:13 a.m.
Comment on mode of inheritance: Although monoallelic mutations can cause disease (predominantly cardiomyopathy) for the purposes of this panel, the appropriate phenotype is described as being caused by recessive truncating mutations (See PMIDs)Created: 6 Feb 2017, 9:11 a.m.
Comment on list classification: 17444505 two families with recessive truncating mutations presenting with congenital / infantile myopathy. Subsequent onset of DCM in mid-childhood. 23975875 - five further individuals with recessive truncating mutations and (2/5) congenital onset myopathy.Created: 6 Feb 2017, 9:09 a.m.
Myopathy, early onset with fatal cardiomyopathy described in association with homozygous truncating mutations in two families. AD inheritance seen in proximal myopathy with respiratory muscle involvement, however this has a later age of onset (average 35 years), therefore probably not relevant to congenital myopathy. Also well known to have a large range of missense mutations without clear pathological implication.Created: 26 Jan 2017, 1:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, early-onset, with fatal cardiomyopathy 611705; Myopathy, proximal, with early respiratory muscle involvement 603689
Publications
- PMID 17444505
Ellen McDonagh (Genomics England Curator)
From Illumina information for this gene, Hereditary Myopathy with Early Respiratory Failure and Udd Distal Myopathy have a dominant mode of inheritance, whereas Salih Myopathy is recessive.Created: 2 Jul 2015, 2:44 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert
- UKGTN
- Phenotypes
-
- Salih myopathy, OMIM:611705
- OMIM
- 188840
- Clinvar variants
- Variants in TTN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric disorders - additional genes
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: TTN was added gene: TTN was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,London South GLH Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 17444505; 23975875; 28295036 Phenotypes for gene: TTN were set to Salih myopathy, OMIM:611705 Penetrance for gene: TTN were set to Complete