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Intellectual disability

Gene: EARS2

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Sep 2020, 3:29 p.m. | Last Modified: 8 Sep 2020, 3:29 p.m.
Panel Version: 3.293
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 14 variants reported in at least 11 unrelated cases, with variable degrees of psycomotor motor delay or regression and little or no language.
Created: 8 Sep 2020, 3:26 p.m. | Last Modified: 8 Sep 2020, 3:29 p.m.
Panel Version: 3.293

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

8 Sep 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: EARS2.

8 Sep 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EARS2 were set to 22492562

8 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ears2 has been classified as Amber List (Moderate Evidence).

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