Hereditary Spastic Paraplegia - paediatric
Gene: HARS2

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Cannot find evidence that spastic paraplegia or spasticity are a feature of this condition.
Created: 19 Apr 2020, 10:22 a.m. | Last Modified: 19 Apr 2020, 10:22 a.m.

Panel Version: 0.71

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 2 MIM#614926

Created: 19 Apr 2020, 10:22 a.m.
Last Modified: 19 Apr 2020, 10:22 a.m.
Panel version: 0.71

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Royal Melbourne Hospital

Phenotypes

Perrault syndrome 2, MIM#614926

OMIM

600783

Clinvar variants

Variants in HARS2

Penetrance

None

Panels with this gene

History Filter Activity

13 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hars2 has been classified as Red List (Low Evidence).

13 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HARS2 was added gene: HARS2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS2 were set to Perrault syndrome 2

Hereditary Spastic Paraplegia - paediatric Gene: HARS2