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Deafness_IsolatedAndComplex

Gene: NARS2

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Sources: Expert list
Created: 31 Dec 2019, 7:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 94, MIM# 618434
  • Combined oxidative phosphorylation deficiency 24, MIM#616239
OMIM
612803
Clinvar variants
Variants in NARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nars2 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nars2 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NARS2 was added gene: NARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NARS2 were set to 25807530; 28077841; 30327238; 25385316 Phenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM# 618434; Combined oxidative phosphorylation deficiency 24, MIM#616239 Review for gene: NARS2 was set to GREEN