Mitochondrial disease

Gene: TARS2

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

• 33153448
• 24827421
• 34508595

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

• 24827421
• 26811336
• 33153448