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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 14 panels

1 review

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)