Childhood onset dystonia, chorea or related movement disorder
Gene: TARS2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Dec 2021, 12:55 p.m. | Last Modified: 14 Dec 2021, 12:55 p.m.
Panel Version: 1.209
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported in at least 7 unrelated cases with a varied phenotype, including encephalomyopathy, epilepsy, dystonia, hyperhidrosis and severe hearing impairment. At least three unrelated cases of dystonia reported. Supportive functional studies were also presented PMID: 34508595.Created: 14 Dec 2021, 12:49 p.m. | Last Modified: 14 Dec 2021, 12:54 p.m.
Panel Version: 1.207
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Publications
Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, OMIM:615918
Tag Q4_21_rating was removed from gene: TARS2.
Source Expert Review Green was added to TARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: TARS2.
Gene: tars2 has been classified as Amber List (Moderate Evidence).
Gene: tars2 has been classified as Amber List (Moderate Evidence).
Publications for gene: TARS2 were set to
Mode of inheritance for gene: TARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: TARS2 was added gene: TARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: TARS2 was set to