Early onset or syndromic epilepsy
Gene: CARS2The 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
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: LiteratureCreated: 15 Oct 2020, 2:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 27, 616672
Publications
Tag for-review was removed from gene: CARS2.
Source Expert Review Green was added to CARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cars2 has been classified as Amber List (Moderate Evidence).
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