Hypertrophic cardiomyopathy
Gene: TSFMComment on mode of inheritance: MOI corrected.Created: 3 Dec 2019, 10:42 a.m. | Last Modified: 3 Dec 2019, 10:42 a.m.
Panel Version: 1.91
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/610505Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
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.
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.
Mode of inheritance for gene: TSFM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for TSFM were set to Combined oxidative phosphorylation deficiency 3 610505
Mode of inheritance for TSFM was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TSFM was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list