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  3. NARS2
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Deafness_Isolated

Gene: NARS2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

The gene-disease association with multi-system mitochondrial disease, including deafness, is well established. However, only one family reported with isolated deafness.
Created: 28 Jul 2020, 10:01 p.m. | Last Modified: 28 Jul 2020, 10:01 p.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 94, MIM#618434

Publications

Created: 28 Jul 2020, 10:01 p.m.
Last Modified: 28 Jul 2020, 10:01 p.m.
Panel version: 0.8

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Amber for isolated childhood onset
Created: 28 Jul 2020, 11:58 a.m. | Last Modified: 28 Jul 2020, 11:58 a.m.
Panel Version: 0.3
Sources: Expert list
Created: 28 Jul 2020, 11:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 94, MIM#618434

Created: 28 Jul 2020, 11:47 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 94, MIM#618434
OMIM
612803
Clinvar variants
Variants in NARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nars2 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NARS2 were set to

28 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nars2 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: NARS2 was added gene: NARS2 was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM#618434 Review for gene: NARS2 was set to GREEN