Monogenic hearing loss
Gene: KARSEnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 13 panels
6 reviews
Louise Daugherty (Genomics England Curator)
Added 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
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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 OMIMCreated: 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
- OMIM
- 601421
- Clinvar variants
- Variants in KARS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- COVID-19 research
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Fetal anomalies
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: KARS.
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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for KARS were set to PMID:10952987; 11331948; 15851690; 20920668; 21181198; 23768514; 25035493; 8514867; 8812440
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for KARS was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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