Monogenic hearing loss
Gene: KARSAdded new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1Created: 6 Sep 2019, 12:07 p.m. | Last Modified: 6 Sep 2019, 12:07 p.m.
Panel Version: 2.2
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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]
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:48 p.m.
Tag new-gene-name tag was added to gene: KARS.
Phenotypes for KARS were set to Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916
Publications for KARS were set to PMID:10952987; 11331948; 15851690; 20920668; 21181198; 23768514; 25035493; 8514867; 8812440
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KARS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
KARS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
KARS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
KARS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert