Deafness_IsolatedAndComplex
Gene: NARS2EnsemblGeneIds (GRCh38): ENSG00000137513
EnsemblGeneIds (GRCh37): ENSG00000137513
OMIM: 612803, Gene2Phenotype
NARS2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 listCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nars2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nars2 has been classified as Green List (High Evidence).
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