Monogenic hearing loss
Gene: HARSAdded new-gene-name tag, new approved HGNC gene symbol for HARS is HARS1Created: 6 Sep 2019, 2:46 p.m. | Last Modified: 6 Sep 2019, 2:46 p.m.
Panel Version: 2.2
After review with the NHS GMS hearing specialist group on 2019-02-13 it was decided to keep this gene redCreated: 26 Feb 2019, 1:54 p.m.
One report linking to usher syndrome, rest all CMT/peripheral neuropathyCreated: 17 Feb 2019, 4:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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
Tag new-gene-name tag was added to gene: HARS.
This gene has been classified as Red List (Low Evidence).
Phenotypes for HARS were set to Usher syndrome type 3B, 614504
Publications for HARS were set to PMID: 12056811; 22279524; 22930593; 25035493; 26072516; 2874482; 2996334; 3464104; 7755634
Mode of inheritance for HARS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
HARS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
HARS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen