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Intellectual disability

Gene: EARS2

No list

EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 14 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

ID is part of the phenotype, particularly in those severely affected.
Sources: Expert list
Created: 1 Feb 2020, 9:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 12, MIM#614924

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

1 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EARS2 was added gene: EARS2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 22492562 Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, MIM#614924 Review for gene: EARS2 was set to GREEN gene: EARS2 was marked as current diagnostic