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Hearing loss

Gene: KARS

Green List (high evidence)

KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 12 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Created: 6 Sep 2019, 12:07 p.m. | Last Modified: 6 Sep 2019, 12:07 p.m.
Panel Version: 2.2

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:49 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613641:?Charcot-Marie-Tooth disease, recessive intermediate, B[Dysmorphic features; Pes cavus; Delayed development; Lower limb muscle weakness due to peripheral neuropathyLower limb muscle atrophy due to peripheral neuropathyClumsy gait' Steppage' gaitFoot dropHyporeflexiaAreflexiaDistal sensory impairmentEMG shows neuropathic changesNerve conduction velocities (NCV) vary from normal to decreased; Self-abusive behavior; Vestibular Schwannoma]; #613916:Deafness, autosomal recessive 89[Hearing loss (affecting all frequencies), moderate to severe]

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:48 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Tags
new-gene-name
OMIM
601421
Clinvar variants
Variants in KARS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KARS were set to Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KARS were set to PMID:10952987; 11331948; 15851690; 20920668; 21181198; 23768514; 25035493; 8514867; 8812440

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

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

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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