AARS

alanyl-tRNA synthetase
OMIM: 601065, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red AARS in Neuromuscular disorders


Version 5.92
Signed off v.5.43 on 4 Mar 2020

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

No list AARS in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593

    Red AARS 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 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 1.7
    Signed off v.1.6 on 15 Oct 2020

    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

    Red AARS in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.207

    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

    No list AARS in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.89
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 29, OMIM:616339
    • Developmental and epileptic encephalopathy, 29, MONDO:0014593

    Red AARS in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    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 1.185
    Signed off v.1.92 on 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 1.35
    Signed off v.1.30 on 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 2.18
    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 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 1.383

    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 2.274
    Signed off v.2.2 on 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 3.740
    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 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 2.20
    Signed off v.2.13 on 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 1.21
    Signed off v.1.2 on 27 Feb 2020

    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 1.43

    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