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Hearing loss

Gene: HARS

Red List (low evidence)

HARS (histidyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000170445
EnsemblGeneIds (GRCh37): ENSG00000170445
OMIM: 142810, Gene2Phenotype
HARS is in 7 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1
Created: 6 Sep 2019, 2:46 p.m. | Last Modified: 6 Sep 2019, 2:46 p.m.
Panel Version: 2.2

Eleanor Williams (Genomics England Curator)

After review with the NHS GMS hearing specialist group on 2019-02-13 it was decided to keep this gene red
Created: 26 Feb 2019, 1:54 p.m.

Emma Ashton (Great Ormond Street Hospital)

I don't know

One report linking to usher syndrome, rest all CMT/peripheral neuropathy
Created: 17 Feb 2019, 4:35 p.m.

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Biallelic for Usher syndrome, as reported in PMID: 22279524.
Created: 23 Feb 2016, 10:52 a.m.
Comment on list classification: Demoted from amber to red, due to expert review and evidence for associated with Usher syndrome seems to be from one study that identified a homozygous variant in 3 Amish individuals with User syndrome. According to OMIM, the allele was found at a frequency of 1.72% in the Old Order Amish population. Possible DD gene for Usher syndrome. More evidence required.
Created: 23 Feb 2016, 10:51 a.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#614504:Usher syndrome type 3B[Hearing loss, progressive, starting in infancy; Visual impairment, progressive, starting early childhoodFine horizontal nystagmusPhotophobiaOptic disc pallorAttenuation of retinal vesselsBull' s eye maculaeDiffuse pigmentary stippling of peripheral retinaVisual hallucinations precipitated by infectious illness (in some patients)Repetitive eye blinking accompanying visual hallucinations (in some patients); Delayed gross motor developmentPatellar tendon reflexes hyperactiveTruncal ataxia, mildGait wide-based; Hallucinations, visual, precipitated by infectious illness (in some patients)Nonsensical speech accompanying visual hallucinations (in some patients)Inappropriate laughter accompanying visual hallucinations (in some patients)Psychomotor agitation accompanying visual hallucinations (in some patients)]; #616625:Charcot-Marie-Tooth disease, axonal, type 2W[Pes cavusHammertoes; Distal muscle weakness of the lower limbs secondary to peripheral neuropathyDistal muscle atrophy of the lower limbs secondary to peripheral neuropathyDistal muscle weakness of the upper limbs (in some patients)Distal muscle atrophy of the upper limbs (in some patients); Impaired gaitSteppage gaitDistal sensory impairmentBrisk patellar reflexesAbsent ankle reflexesElectrophysiologic studies show normal or mildly decreased motor nerve conduction velocities]

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Usher syndrome type 3B, 614504
Tags
new-gene-name
OMIM
142810
Clinvar variants
Variants in HARS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HARS were set to Usher syndrome type 3B, 614504

23 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HARS were set to PMID: 12056811; 22279524; 22930593; 25035493; 26072516; 2874482; 2996334; 3464104; 7755634

23 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HARS was changed to BIALLELIC, autosomal or pseudoautosomal

23 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HARS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HARS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen