Hypertrophic cardiomyopathy
Gene: TSFMEnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 13 panels
6 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Rebecca Whittington (South West GLH)
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
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)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 3 610505
- OMIM
- 604723
- Clinvar variants
- Variants in TSFM
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: TSFM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TSFM were set to Combined oxidative phosphorylation deficiency 3 610505
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TSFM was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TSFM was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list