HARS

histidyl-tRNA synthetase
OMIM: 142810, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red HARS in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders Tags new-gene-name
Amber HARS in Ataxia and cerebellar anomalies - narrow panel Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Multisystem ataxic syndrome Intellectual disability Tags new-gene-name
Red HARS in DDG2P Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes USHER SYNDROME 614504 Tags new-gene-name
Green HARS in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert list Tags new-gene-name
Red HARS in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.40 Latest signed off version: v4.39 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Usher syndrome type 3B, 614504 Tags new-gene-name
Amber HARS in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.5 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome mild-severe intellectual disability Tags new-gene-name
Red HARS in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Eye Disorders Usher syndrome type 3B Usher syndrome Tags new-gene-name
Red HARS in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Usher syndrome type 3B, 614504 Charcot-Marie-Tooth disease, axonal, type 2W, 616625 Eye Disorders Tags new-gene-name
Green HARS in Hereditary neuropathy or pain disorder Version 4.6 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2W, OMIM:616625 Tags new-gene-name