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Mitochondrial disease

Gene: TARS2

Green List (high evidence)

TARS2 (threonyl-tRNA synthetase 2, mitochondrial (putative))
EnsemblGeneIds (GRCh38): ENSG00000143374
EnsemblGeneIds (GRCh37): ENSG00000143374
OMIM: 612805, Gene2Phenotype
TARS2 is in 4 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

8 cases from 7 unrelated families are reported in the literature with a heterogenous phenotype characterised by either early-onset illness within the first months, of severe hypotonia, failure to thrive, epilepsy and early death, or onset after six months with a milder course and longer survival. Other phenotypic features include developmental delay, MRI-B abnormalities and more rarely dystonia, regression, hyperhidrosis and hearing impairment.
Created: 11 Oct 2021, 6:38 a.m. | Last Modified: 11 Oct 2021, 6:38 a.m.
Panel Version: 0.651

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 21 - 615918; Epilepsy; Developmental Delay

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported, single affected individual, compound het missense variants, computational data only in support of pathogenicity.
Created: 2 Dec 2020, 4:02 a.m. | Last Modified: 2 Dec 2020, 4:02 a.m.
Panel Version: 0.558
Single family and functional data.
Created: 18 Mar 2020, 3:06 a.m. | Last Modified: 18 Mar 2020, 3:06 a.m.
Panel Version: 0.174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 21, MIM# 615918

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 21, MIM# 615918
OMIM
612805
Clinvar variants
Variants in TARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TARS2 were set to 24827421; 26811336; 33153448

11 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tars2 has been classified as Green List (High Evidence).

2 Dec 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TARS2 were set to 24827421; 26811336

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tars2 has been classified as Amber List (Moderate Evidence).

18 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918

18 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TARS2 were set to

18 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tars2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TARS2 was added gene: TARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TARS2 was set to Unknown