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  2. Early onset or syndromic epilepsy
  3. CARS2
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Early onset or syndromic epilepsy

Gene: CARS2

Green List (high evidence)
CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000134905
EnsemblGeneIds (GRCh37): ENSG00000134905
OMIM: 612800, Gene2Phenotype
CARS2 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 5:34 p.m. | Last Modified: 3 Mar 2022, 5:34 p.m.
Panel Version: 2.491
Created: 3 Mar 2022, 5:34 p.m.
Last Modified: 3 Mar 2022, 5:34 p.m.
Panel version: 2.491

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence to support a gene-disease association. This gene has been added with an Amber rating but should be promoted to Green at the GMS panel update (added 'for-review' tag).

Note this is a metabolic gene and is already Green on the Inborn errors of metabolism (v2.3) panel.
Created: 15 Oct 2020, 2:14 p.m. | Last Modified: 15 Oct 2020, 2:14 p.m.
Panel Version: 2.176
Associated with phenotype in OMIM and as a probable gene for Epileptic encephalopathy with complex movement disorder and regression in Gen2Phen.

At least 6 individuals from 5 unrelated families, all with different biallelic variants in CARS2 and a neurodegenerative disorder which includes early-onset seizures.
Sources: Literature
Created: 15 Oct 2020, 2:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 27, 616672

Publications

Created: 15 Oct 2020, 2:07 p.m.

Panel version: 2.175

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 27, 616672
OMIM
612800
Clinvar variants
Variants in CARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: CARS2.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to CARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

15 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cars2 has been classified as Amber List (Moderate Evidence).

15 Oct 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: CARS2 was added gene: CARS2 was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: CARS2. Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS2 were set to 25361775; 25787132; 30139652; 32571458; 32348839 Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 Review for gene: CARS2 was set to GREEN