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Arthrogryposis

Gene: TTN

Green List (high evidence)

TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 17 panels

3 reviews

Zerin Hyder (Genomics England)

Green List (high evidence)

By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.
Created: 27 Nov 2019, 12:35 p.m. | Last Modified: 28 Nov 2019, 4:30 p.m.
Panel Version: 2.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salih myopathy; Muscular dystrophy, limb-girdle, autosomal recessive 10

Publications

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: With agreement from Zerin Hyder, changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.
Created: 26 Nov 2019, 1:19 p.m. | Last Modified: 29 Nov 2019, 12:57 p.m.
Panel Version: 2.101
Upgraded TTN from Red to Green. TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: "Biallelic LOF are congenital titinopathy with arthrogryposis". There is a second case from 2017 (PMID:28040389) and 8 more families in PMID:31660661. TTN is also Green on the 'Neuromuscular arthrogryposis' panel V0.21.
Created: 26 Nov 2019, 1:15 p.m. | Last Modified: 26 Nov 2019, 1:15 p.m.
Panel Version: 2.47

Alice Gardham (Genomics England)

Red List (low evidence)

Arthrogryposis only reported in one patients with biallelic TTN mutations
Created: 22 Dec 2016, 2:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
core myopathy with heart disease

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Congenital titinopathy with arthrogryposis
  • Hereditary Myopathy with Early Respiratory Failure
  • Cardiomyopathy, familial hypertrophic, 9, 613765
  • Hereditary Myopathy with Early Respiratory Failure (dominant)
  • Udd Distal Myopathy (Dominant)
  • Salih Myopathy (recessive)
  • core myopathy with heart disease
OMIM
188840
Clinvar variants
Variants in TTN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TTN were set to 24105469; 28040389; 31660661

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ttn has been classified as Green List (High Evidence).

26 Nov 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

26 Nov 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Nov 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TTN were changed from Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease to Congenital titinopathy with arthrogryposis; Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease

26 Nov 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TTN were set to 24105469

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

22 Dec 2016, Gel status: 1

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for TTN were set to ; Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive);core myopathy with heart disease

22 Dec 2016, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for TTN were set to 24105469

22 Dec 2016, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for TTN were set to 24105469

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services TTN was added to Arthrogryposispanel. Source: UKGTN TTN was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen TTN was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TTN was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Arthrogryposispanel. Sources: Expert list