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  3. LARS2
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Deafness_Isolated

Gene: LARS2

Green List (high evidence)
LARS2 (leucyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000011376
EnsemblGeneIds (GRCh37): ENSG00000011376
OMIM: 604544, Gene2Phenotype
LARS2 is in 17 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Can have copy number variants (deletions) in trans with missense/LOF variants. Many reported families. "Strong"classification by ClinGen expert panel.
Created: 31 Dec 2019, 1:34 a.m. | Last Modified: 31 Dec 2019, 1:34 a.m.
Panel Version: 0.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome

Publications

Created: 31 Dec 2019, 1:34 a.m.
Last Modified: 31 Dec 2019, 1:34 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.77

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lars2 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LARS2 were set to

3 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: LARS2.

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LARS2 was added gene: LARS2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to Perrault syndrome 4, MIM#615300