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Intellectual disability syndromic and non-syndromic

Gene: CARS2

Green List (high evidence)

CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000134905
EnsemblGeneIds (GRCh37): ENSG00000134905
OMIM: 612800, Gene2Phenotype
CARS2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype.
Sources: Expert list
Created: 1 Feb 2020, 12:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 27, MIM#616672

Publications

Details

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

History Filter Activity

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cars2 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cars2 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CARS2 was added gene: CARS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS2 were set to 30139652; 25787132 Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, MIM#616672 Review for gene: CARS2 was set to GREEN