Deafness_IsolatedAndComplex
Gene: KARSNew HGNC approved name is KARS1(HGNC:6215)Created: 6 May 2024, 6:15 a.m. | Last Modified: 6 May 2024, 6:15 a.m.
Panel Version: 1.180
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
multiple unrelated families. some functional evidence. Limited by ClinGenCreated: 31 Dec 2019, 1:26 a.m. | Last Modified: 31 Dec 2019, 1:26 a.m.
Panel Version: 0.74
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive sensorineural hearing loss
Publications
Tag new gene name tag was added to gene: KARS.
Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM# 613916 to Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196; Deafness, autosomal recessive 89, MIM# 613916
Gene: kars has been classified as Green List (High Evidence).
Phenotypes for gene: KARS were changed from to Deafness, autosomal recessive 89, MIM# 613916
Publications for gene: KARS were set to
Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: KARS was added gene: KARS was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: KARS was set to Unknown