MTOR

mechanistic target of rapamycin kinase
OMIM: 601231, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red MTOR in COVID-19 research


Level 2: Viral research
Version 1.76

review Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • 19543266
  • 29475942
  • 28953980

Red MTOR in Segmental overgrowth disorders


Version 2.10
Latest signed off version: v2.1 (24 Feb 2020)

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

Green MTOR in Pigmentary skin disorders


Version 1.9
Latest signed off version: v1.4 (15 Oct 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 2.44
Latest signed off version: v2.2 (25 Feb 2020)

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 0.27

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green MTOR in Mosaic skin disorders - deep sequencing


    Version 1.5
    Latest signed off version: v1.3 (15 Oct 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 1.103

    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 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

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

    Green MTOR in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (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 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    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 1.8
    Latest signed off version: v1.4 (4 Mar 2020)

    Component of the following Super Panels:

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

    Green MTOR in Severe Paediatric Disorders


    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Smith-Kingsmore syndrome, 616638