HARS

histidyl-tRNA synthetase
OMIM: 142810, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green HARS in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W MIM#616625 Usher syndrome type 3B MIM#614504 Multisystemic ataxic syndrome
Red HARS in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Usher syndrome type 3B, MIM# 614504
Amber HARS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome mild-severe intellectual disability
Amber HARS in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome
Green HARS in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 MONDO:0014711 HMSN Tags new gene name
Red HARS in Usher Syndrome Level 2: Ophthalmological disorders Version 1.5 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Usher syndrome type 3B
Red HARS in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red RetNet Victorian Clinical Genetics Services Phenotypes Usher syndrome type 3B
Red HARS in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Usher syndrome type 3B
Red HARS in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Usher syndrome type 3B