HARS

histidyl-tRNA synthetase
OMIM: 142810, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red HARS in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.9

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Tags
  • new-gene-name

Amber HARS in Ataxia and cerebellar anomalies - narrow panel


Version 2.39
Signed off v.2.23 on 8 Oct 2020

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 2.18
    Signed off v.2.2 on 13 Feb 2020

    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 1.381

    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 Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.146
    Signed off v.2.5 on 13 Feb 2020

    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 3.714
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • multisystem ataxic syndrome
    • mild-severe intellectual disability
    Tags
    • new-gene-name

    Green HARS in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.120
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders
    • Usher syndrome type 3B
    • Usher syndrome
    Tags
    • new-gene-name
    • for-review

    Red HARS in Structural eye disease


    Version 1.42
    Signed off v.1.3 on 4 Mar 2020

    review BOTH monoallelic and 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 NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Tags
    • new-gene-name