Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: TSFM

Green List (high evidence)

TSFM (Ts translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000123297
EnsemblGeneIds (GRCh37): ENSG00000123297
OMIM: 604723, Gene2Phenotype
TSFM is in 14 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Combined oxidative phosphorylation deficiency-3 can present with paucity of fetal movements, IUGR, and hypertrophic cardiomyopathy postnatally. Suitable for fetal anomalies panel.
Created: 13 Jan 2022, 5:45 a.m. | Last Modified: 13 Jan 2022, 5:45 a.m.
Panel Version: 0.2007

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsfm has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSFM were changed from Combined oxidative phosphorylation deficiency 3 to Combined oxidative phosphorylation deficiency 3, MIM#610505

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tsfm has been classified as Green List (High Evidence).

13 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tsfm has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 31267352 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3