AARS

alanyl-tRNA synthetase
OMIM: 601065, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Amber AARS in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.25
Latest signed off version: v2.7 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • trichothiodystrophy, MONDO:0018053
Tags
  • watchlist
  • new-gene-name

Red AARS in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review Unknown
Sources
  • Expert Review Red
Tags
  • new-gene-name

Amber AARS in White matter disorders and cerebral calcification - narrow panel


Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593
    Tags
    • new-gene-name
    • Q2_21_rating

    Red AARS in Ataxia and cerebellar anomalies - narrow panel


    Version 2.300
    Latest signed off version: v2.23 (8 Oct 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
    • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
    Tags
    • new-gene-name

    Green AARS in White matter disorders - adult onset


    Version 1.43
    Latest signed off version: v1.25 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, 613287
    Tags
    • new-gene-name
    • Q4_21_expert_review
    • to_be_confirmed_NHSE

    Red AARS in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.303

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
    • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
    Tags
    • new-gene-name

    Green AARS in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.315
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593
    Tags
    • new-gene-name

    Red AARS in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
    • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
    Tags
    • new-gene-name

    Amber AARS in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593
    Tags
    • new-gene-name

    Red AARS in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.79
    Latest signed off version: v1.30 (4 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Tags
    • new-gene-name

    Amber AARS in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.
    Tags
    • new-gene-name

    Green AARS in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
    • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
    Tags
    • new-gene-name

    Green AARS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593
    Tags
    • new-gene-name

    Green AARS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (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 Green
    Phenotypes
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593
    Tags
    • new-gene-name

    Amber AARS in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
    • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
    Tags
    • new-gene-name

    Green AARS in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
    • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
    Tags
    • new-gene-name

    Green AARS in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287
    • Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593
    Tags
    • new-gene-name