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Prepair 1000+

Gene: TTN

Amber List (moderate evidence)

TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 15 panels

2 reviews

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple reported individuals asserted to have a limb girdle muscular dystrophy presentation were evaluated and determined to meet the Limb Girdle Muscular Dystrophy GCEP-specified criteria for a limb girdle muscular dystrophy phenotype (progressive weakness in limb musculature (pelvic and shoulder girdle), independent ambulation by the age 2 years, elevated creatine kinase of >2X the upper limit of normal, muscle biopsy with dystrophic and myopathic features).
Model animals, functional studies present.

Lumping comment s from Clingen: "we found insufficient evidence of a distinct molecular mechanism and wide phenotypic variability between the recessive forms of titinopathies and, therefore, the following disease entities asserted in the literature have been lumped into one disease entity termed "TTN-related myopathy": limb-girdle muscular dystrophy, (MIM #608807) centronuclear myopathy (not an OMIM entity, note that the histopathological findings observed in affected individuals may not always include internal nuclei and the term congenital myopathy with multiple internal nuclei may be more appropriate to represent this heterogeneity), Salih myopathy (MIM #611705), Emery-Dreifuss-like muscular dystrophy (not an OMIM entity), titinopathy with congenital contractures (not an OMIM entity), minicore myopathy (not an OMIM entity), and distal titinopathy (not an OMIM entity)."

Condition adequate severity for inclusion in screening - review regarding ?technical challenges.
Created: 6 Mar 2025, 6:08 a.m. | Last Modified: 6 Mar 2025, 6:08 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TTN-related myopathy MONDO:0100175

Publications

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Time consuming and low yield. Novel variants including LoF variants does not meet criteria for classifying as LP/P, therefore not reportable. TTN is on the incidentalome
Created: 14 Jul 2022, 6:48 a.m. | Last Modified: 14 Jul 2022, 6:48 a.m.
Panel Version: 0.40

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1G (MIM#604145); Cardiomyopathy, familial hypertrophic, 9 (MIM#613765); Muscular dystrophy, limb-girdle, autosomal recessive 10 (MIM#608807); Myopathy, myofibrillar, 9, with early respiratory failure (MIM#603689); Salih myopathy (MIM#611705); Tibial muscular dystrophy, tardive (MIM#600334)

History Filter Activity

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttn has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttn has been classified as Amber List (Moderate Evidence).

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTN was added gene: TTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)