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Hereditary neuropathy NOT PMP22 copy number

Gene: HARS

Green List (high evidence)

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

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1
Created: 6 Sep 2019, 2:47 p.m. | Last Modified: 6 Sep 2019, 2:47 p.m.
Panel Version: 1.333
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Monoallelic for Charcot-Marie-Tooth disease, axonal, type 2W (Biallelic for Usher syndrome type 3B).
Created: 4 May 2016, 11:40 a.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.
Created: 4 May 2016, 11:39 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Tags
new-gene-name
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
None
Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HARS was added gene: HARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted