1. Genes and Genomic Entities
  2. MTOR

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 1.142

review Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • 19543266
  • 29475942
  • 28953980
Red MTOR in Segmental overgrowth disorders - Deep sequencing


Version 3.17
Latest signed off version: v3.3 (22 Mar 2023)

review Not set
Sources
  • UKGTN
Phenotypes
  • Segmental Overgrowth Syndrome
  • Hemimegalencephaly
  • HME
Green MTOR in Pigmentary skin disorders


Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

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 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Cerebral malformation

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


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green MTOR in Mosaic skin disorders - deep sequencing


    Version 2.47
    Latest signed off version: v2.0 (30 Nov 2022)

    		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 1.120

    		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 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Smith-Kingsmore syndrome
    Green MTOR in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Smith-Kingsmore syndrome, OMIM:616638
    Green MTOR in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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
    • Smith-Kingsmore syndrome, OMIM:616638
    • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MONDO:0014716
    • Focal cortical dysplasia, type II, somatic, OMIM:607341isolated focal cortical dysplasia type II, MONDO:0011818
    Green MTOR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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
    • missense
    • mosaicism
    • somatic
    Red MTOR in Neurological segmental overgrowth


    Version 2.13
    Latest signed off version: v2.12 (1 May 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review Not set
    Sources
    • Expert Review Red
    Phenotypes
    • Segmental Overgrowth Syndrome
    • HME
    • Hemimegalencephaly
    Green MTOR in Severe Paediatric Disorders


    Version 1.184

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