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Intellectual disability

Gene: CARS2

Amber List (moderate evidence)

CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000134905
EnsemblGeneIds (GRCh37): ENSG00000134905
OMIM: 612800, Gene2Phenotype
CARS2 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM and as a probable G2P. At least 3 variants reported in two unrelated families with neurodegenerative disorders developing in childhood and infancy.
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Combined oxidative phosphorylation deficiency 27 616672
Clinvar variants
Variants in CARS2
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CARS2 was added to Intellectual disability panel. Sources: Expert Review Amber

5 Jan 2018, Gel status: 2


Ellen McDonagh (Genomics England Curator)

CARS2 was created by Ellen McDonagh