Hypertrophic cardiomyopathy - teen and adult

Gene: TSFM

Red List (low evidence)

TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 11 panels

5 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Combined oxidative phosphorylation deficiency 3 (610505)
Created: 25 Mar 2019, 4:30 p.m.
AR Multisystemic disorder which a feature can be HCM. https://omim.org/clinicalSynopsis/610505
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Helen Brittain (Genomics England Curator)

Comment when marking as ready: This gene causes an earlier onset, syndromic presentation that phenotypically is out of scope for this panel. Therefore demoted to red. Recruits to the HCM category who have an age of onset <18yrs will be offered other metabolic panels in addition, to capture these syndromic presentations.
Created: 18 Dec 2017, 11:09 a.m.
Comment on list classification: This gene causes an earlier onset, syndromic presentation that phenotypically is out of scope for this panel. Therefore demoted to red. Recruits to the HCM category who have an age of onset <18yrs will be offered other metabolic panels in addition, to capture these syndromic presentations.
Created: 18 Dec 2017, 11:09 a.m.

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

Does not seem relevant for an adult/teen-onset HCM panel. Causes a highly variable syndromic mitochondrial phenotype. If this gene is included, should include most/all other mitochondrial causes of COXPD (dozens of additional genes); there appears nothing special about this gene that would justify inclusion in a non-syndromic adult HCM panel.

Re: GeL review from Sarah Leigh; Dr Arianna Tucci is a neurologist, cannot see that this expertise is relevant for adult cardiomyopathy (?possibly more relevant as part of a broader metabolic disorder panel, but not for non-syndromic adult cardiomyopathy?)
Created: 21 Nov 2017, 3:37 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 21 Mar 2017, 2:41 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TSFM. Mode of inheritance for gene TSFM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Dec 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

18 Dec 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

21 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TSFM were set to Combined oxidative phosphorylation deficiency 3 610505

21 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TSFM was changed to BIALLELIC, autosomal or pseudoautosomal

21 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSFM was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list