KARS1

lysyl-tRNA synthetase 1
OMIM: 601421, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green KARS1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Green KARS1 in Mendeliome Version 2.10	1 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 KARS1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.1 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 KARS1 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship 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 KARS1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	3 reviews	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 KARS1 in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 2.0 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	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 KARS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.1	1 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 KARS1 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Amber KARS1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 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 KARS1 in Additional findings_Paediatric Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes deafness with progressive leukodystrophy
Red KARS1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Red KARS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	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