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Hereditary Neuropathy_CMT - isolated

Gene: HARS

Green List (high evidence)
HARS (histidyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 9 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

CMT - only missense reported, DN mechanism strongly suggested.
Usher syndrome type 3B (MIM#614504) - RED association. Clingen refutes this.

Galatolo (2020):
Multisystemic ataxic syndrome incl ID, microcephaly, skeletal deformities. Two unrelated families w/ biallelic variants and supporting functional studies -> LOF. Carrier parent/sib described as healthy.

Brozkova (2015): missense variants cannot rescue in yeast complementation assay. Acknowledges DN possibility
Meyer-Schuman and Antonellis (2021): Review, strongly suggests a DN mechanism for missense causing CMT.
Created: 18 Feb 2021, 11:32 p.m. | Last Modified: 18 Feb 2021, 11:32 p.m.
Panel Version: 0.6404

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625; Usher syndrome type 3B MIM#614504; Multisystemic ataxic syndrome

Publications

Mode of pathogenicity
Other

Created: 18 Feb 2021, 11:32 p.m.
Last Modified: 18 Feb 2021, 11:32 p.m.
Panel version: Imported from Mendeliome panel version 0.6404

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.

New HGNC approved name is HARS1.
Created: 31 Dec 2019, 2:40 a.m. | Last Modified: 4 May 2021, 4:49 a.m.
Panel Version: 0.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625

Publications

Created: 31 Dec 2019, 2:40 a.m.
Last Modified: 4 May 2021, 4:49 a.m.
Panel version: Imported from Peripheral Neuropathy_CMT panel version 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625
  • MONDO:0014711
  • HMSN
Tags
new gene name
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: HARS.

4 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HARS were changed from Charcot-Marie-Tooth disease, axonal, type 2w; HMSN to Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625; MONDO:0014711; HMSN

4 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HARS were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HARS was added gene: HARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HARS were set to Charcot-Marie-Tooth disease, axonal, type 2w; HMSN