HARS1

histidyl-tRNA synthetase 1
OMIM: 142810, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green HARS1 in Mendeliome Version 2.10	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 HARS1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	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 Tags refuted
Amber HARS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome mild-severe intellectual disability
Amber HARS1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome
Green HARS1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 MONDO:0014711 HMSN Tags new gene name
Red HARS1 in Usher Syndrome Level 2: Ophthalmological disorders Version 2.0 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 Tags refuted
Red HARS1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0 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 Tags refuted
Red HARS1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Usher syndrome type 3B
Red HARS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Usher syndrome type 3B