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  3. EARS2
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Fetal anomalies

Gene: EARS2

Green List (high 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)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 14 panels, inc.severe paediatric disorders, IEM. Associated with combined oxidative phosphorylation deficiency 12 (AR) and leukoencephalopathy - but not in OMIM. Pergande et al., 2020 PMID 31680123: Paper sequencing patients with fetal akinesia. Px 32: IUGR, joint contractures, dysmorphic facial features (micrognathia, hypertelorism, cleft palate, pterygium colli), microcephaly, porencephaly and lisencephaly. Male patient. Aged 0. Classified as likely pathogenic (ACMG) for leukencephalopathy-associated disease gene; fitted phenotype. Oliveira et al., 2017 PMID 27571996: Case report of patient with EARS2 variants that died at 5mo. 21 week ultrasound showed mild ventriculomegaly, confirmed by foetal brain MRI at 22wk. Second foetal MRI at 24wk normal. Developed lactic acidosis, hypotonia, dysgenesis of CC and hepatomegaly. 3rd pregnancy of couple. One had ended due to brain abnormality (agenesis of CC). Boutaud et al 2022 PMID: 36349561: Family C 2xTOP complete agenesis of CC. Conclusion: linked to prenatal phenotypes (IUGR, joint contractures, dysmorphic facial features, microcephaly, porencephaly, lissencephaly, fetal akinesia, ventriculomegaly, ?agenesis of CC). Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 12, OMIM:614924

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: EARS2. Tag Q2_23_NHS_review was removed from gene: EARS2.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to EARS2. Source NHS GMS was added to EARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: EARS2 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: EARS2. Tag Q2_23_NHS_review tag was added to gene: EARS2.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: EARS2 was added gene: EARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, OMIM:614924