Distal myopathies
Gene: TTNThe recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:25 p.m. | Last Modified: 3 Aug 2022, 3:25 p.m.
Panel Version: 1.48
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:52 a.m. | Last Modified: 9 Mar 2022, 11:52 a.m.
Panel Version: 1.41
Comment when marking as ready: this is a v large gene, and very polymorphic, but definitely a distal myopathy geneCreated: 20 Feb 2017, 5:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tibial muscular dystrophy, tardive, 600334
Publications
Mode of inheritance for gene TTN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Phenotypes for TTN were set to Tibial muscular dystrophy, tardive, 600334
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for TTN were set to 12145747
Mode of inheritance for TTN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TTN was added to Distal myopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services