TSFM

Ts translation elongation factor, mitochondrial
OMIM: 604723, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TSFM in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505
Green TSFM in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TSFM in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3 610505
Green TSFM in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 (3)
Green TSFM in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH Expert Review Green 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
Green TSFM in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505
Green TSFM in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505
Green TSFM in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505