Mitochondrial disease
Gene: TARS2
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
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
Publications for gene: TARS2 were set to 24827421; 26811336; 33153448
Gene: tars2 has been classified as Green List (High Evidence).
Publications for gene: TARS2 were set to 24827421; 26811336
Gene: tars2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918
Publications for gene: TARS2 were set to
Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: tars2 has been classified as Amber List (Moderate Evidence).
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