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Deafness_IsolatedAndComplex
Gene: HARS2

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000112855
EnsemblGeneIds (GRCh37): ENSG00000112855
OMIM: 600783, Gene2Phenotype
HARS2 is in 11 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

'Limited' by ClinGen Expert panel but new papers published since this was classified.
Created: 31 Dec 2019, 1:21 a.m. | Last Modified: 31 Dec 2019, 1:21 a.m.

Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome; autosomal recessive sensorineural hearing loss

Publications

Created: 31 Dec 2019, 1:21 a.m.
Last Modified: 31 Dec 2019, 1:21 a.m.
Panel version: 0.72

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Perrault syndrome 2, MIM# 614926

OMIM

Clinvar variants

Variants in HARS2

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: hars2 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, MIM# 614926 to Perrault syndrome 2, MIM# 614926

31 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926

31 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HARS2 were set to

31 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HARS2 was added gene: HARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: HARS2 was set to Unknown