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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 7 panels

2 reviews

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