Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: NARS2

Red List (low evidence)

NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000137513
EnsemblGeneIds (GRCh37): ENSG00000137513
OMIM: 612803, Gene2Phenotype
NARS2 is in 8 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

Only one family described with isolated deafness; however, deafness is also part of the phenotype of the multi-system mitochondrial disorder associated with this gene, and it is difficult to know in what proportion of patients it may initially present with limited features such as deafness.
Created: 2 Jan 2020, 5:09 a.m. | Last Modified: 2 Jan 2020, 5:09 a.m.
Panel Version: 2.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 94, MIM#618434; Combined oxidative phosphorylation deficiency 24, MIM#616239

Publications

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

Emma Ashton (Great Ormond Street Hospital)

Red List (low evidence)

Included in our current panel, no class 4 or 5 variants identified. One report of a homozygous missense variant associated with non-syndromic deafness (Simon et al 2015 PMID 25807530). Large consanguineous family 6 affected members all homozygous.
Created: 17 Feb 2019, 4:35 p.m.

Eleanor Williams (Genomics England Curator)

Added at suggestion of Emma Ashton, GOSH
Sources: Expert list
Created: 17 Feb 2019, 4:33 p.m.

Mode of inheritance
Unknown

History Filter Activity

17 Feb 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NARS2 were set to

17 Feb 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: NARS2 was added gene: NARS2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: NARS2 was set to Unknown