Distal myopathies

Gene: TTN

Green List (high evidence)

TTN (titin)
EnsemblGeneIds (GRCh38): ENSG00000155657
EnsemblGeneIds (GRCh37): ENSG00000155657
OMIM: 188840, Gene2Phenotype
TTN is in 18 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: this is a v large gene, and very polymorphic, but definitely a distal myopathy gene
Created: 20 Feb 2017, 5:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tibial muscular dystrophy, tardive, 600334

Publications

History Filter Activity

22 Feb 2017, Gel status: 4

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.

20 Feb 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for TTN were set to Tibial muscular dystrophy, tardive, 600334

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

20 Feb 2017, Gel status: 1

Set publications

Arianna Tucci (Genomics England Curator)

Publications for TTN were set to 12145747

20 Feb 2017, Gel status: 1

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TTN was added to Distal myopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services