KARS

lysyl-tRNA synthetase
OMIM: 601421, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green KARS in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Deafness, autosomal recessive 89, MIM# 613916 Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Green KARS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147
Green KARS in Mitochondrial disease Level 2: Metabolic disorders Version 0.970 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green KARS in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.213	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196 Deafness, autosomal recessive 89, MIM# 613916 Tags new gene name
Green KARS in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 1.0 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893
Green KARS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Combined mitochondrial oxidative phosphorylation deficiency epilepsy intellectual disability microcephaly
Green KARS in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Amber KARS in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641 MONDO:0013338)
Green KARS in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Phenotypes Deafness, autosomal recessive 89, MIM# 613916
Green KARS in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes deafness with progressive leukodystrophy
Red KARS in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Red KARS in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Deafness, autosomal recessive 89, MIM# 613916 Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196