MTOR

mechanistic target of rapamycin kinase
OMIM: 601231, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red MTOR in Segmental overgrowth disorders


Version 2.1
Signed off v.2.0 on 12 Dec 2019

review Not set
Sources
  • UKGTN
Phenotypes
  • Segmental Overgrowth Syndrome
  • Hemimegalencephaly
  • HME

Green MTOR in Pigmentary skin disorders


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • SKS
  • SMITH-KINGSMORE SYNDROME
  • Hypomelanosis of Ito/Blaschko-linear hypopigmentation

Green MTOR in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.2
Signed off v.2.1 on 11 Dec 2019

Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Focal cortical dysplasia, type II, somatic 607341
    Tags
    • somatic
    • mosaicism

    Red MTOR in Autism


    Version 0.15

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green MTOR in Mosaic skin disorders - deep sequencing


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hypomelanosis of Ito/Blaschko-linear hypopigmentation

    Green MTOR in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
    Level 2: Growth disorders
    Version 1.94

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Overgrowth with Intellectual disability
    • Human overgrowth syndrome type

    Green MTOR in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Smith-Kingsmore syndrome

    Green MTOR in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY
    • Smith-Kingsmore syndrome
    Tags
    • watchlist

    Green MTOR in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Other
    • Expert Review Green
    Phenotypes
    • Focal cortical dysplasia, type II, somatic

    Green MTOR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Smith-Kingsmore syndrome, 616638
    • Intellectual Disability
    • Focal cortical dysplasia, type II, somatic 607341
    Tags
    • mosaicism
    • missense
    • somatic

    Red MTOR in Neurological segmental overgrowth


    Version 1.1
    Signed off v.1.0 on 11 Dec 2019

    Component of the following Super Panels:

  • Cerebral malformations
  • review Not set
    Sources
    • Expert Review Red
    Phenotypes
    • Segmental Overgrowth Syndrome
    • HME
    • Hemimegalencephaly