Cardiomyopathy_Paediatric
Gene: TSFM
TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- South West GLH
- NHS GMS
- Phenotypes
-
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Combined oxidative phosphorylation deficiency 3, 610505
- Combined oxidative phosphorylation deficiency 3 610505
- OMIM
- 604723
- Clinvar variants
- Variants in TSFM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TSFM was added gene: TSFM was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308 Phenotypes for gene: TSFM were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3, 610505; Combined oxidative phosphorylation deficiency 3 610505