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  3. TSFM
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Mitochondrial disorders

Gene: TSFM

Green List (high evidence)
TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 13 panels

2 reviews

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
Created: 21 Mar 2017, 10:23 a.m.
Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis);
Created: 21 Mar 2017, 9:57 a.m.
Created: 21 Mar 2017, 9:57 a.m.

Panel version: 1.40

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
OMIM
604723
Clinvar variants
Variants in TSFM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TSFM. Panel: Mitochondrial disorders

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).

21 Mar 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

21 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TSFM were set to 27604308;17033963;25037205

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TSFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TSFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen