1. Genes and Genomic Entities
  2. TSC2

TSC2

TSC complex subunit 2
OMIM: 191092, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels
Green TSC2 in Classical tuberous sclerosis

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tuberous sclerosis-2, 613254
  • Tuberous Sclerosis
Green TSC2 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis type 2
Red TSC2 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Tuberous sclerosis-2 613254
Red TSC2 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Green TSC2 in Pneumothorax - familial


Level 2: Respiratory
Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Lymphangioleiomyomatosis, MONDO:0011705
  • Tuberous sclerosis-2, OMIM:613254
Green TSC2 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • 613254
  • Tuberous sclerosis type 2
Green TSC2 in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis
  • TUBEROUS SCLEROSIS 2
  • TSC2
Red TSC2 in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Focal cortical dysplasia, type II, somatic 607341
    Tags
    • somatic
    • mosaicism
    Green TSC2 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert
    Green TSC2 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert
    Phenotypes
    • Tuberous sclerosis-2 613254
    Amber TSC2 in Mosaic skin disorders - deep sequencing


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Tuberous sclerosis-2, OMIM: 613254
    • tuberous sclerosis 2, MONDO:0013199
    Tags
    • Q4_25_promote_green
    • Q4_25_NHS_review
    No list TSC2 in Multiple monogenic benign skin tumours


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Tuberous sclerosis
    Tags
    • curated_removed
    Green TSC2 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tuberous sclerosis type 2
    Green TSC2 in Adult solid tumours cancer susceptibility


    Level 2: Cancer susceptibility
    Version 2.35
    Latest signed off version: v2.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tuberous sclerosis type 2
    Red TSC2 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Red TSC2 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    No list TSC2 in Ehlers Danlos syndrome with a likely monogenic cause


    Level 2: Musculoskeletal
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • cutis laxa (Conditions which present with lung cystic lesions include alpha-1-antitrypsin deficiency, Birt-Hogg-Dube syndrome, tuberous sclerosis, complex-associated lymphangioleiomyomatosis (LAM), cutis laxa, and emphysema)
    Tags
    • curated_removed
    Green TSC2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LYMPHANGIOLEIOMYOMATOSIS
    • TUBEROUS SCLEROSIS TYPE 2
    Green TSC2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TUBEROUS SCLEROSIS TYPE 2 613254
    • LYMPHANGIOLEIOMYOMATOSIS 606690
    Green TSC2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Focal cortical dysplasia, type II, somatic 607341
    • Tuberous sclerosis-2 613254
    Green TSC2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690
    • LYMPHANGIOLEIOMYOMATOSIS (LAM)
    Amber TSC2 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Tuberous sclerosis-2, OMIM:613254
    Green TSC2 in Primary lymphoedema


    Level 2: Cardiology
    Version 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Focal cortical dysplasia, type II, somatic 607341
    • Lymphangioleiomyomatosis, somatic 606690
    • Tuberous sclerosis-2 613254
    Red TSC2 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    Green TSC2 in Tuberous sclerosis


    Level 2: Neurology
    Version 1.4
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Tuberous sclerosis-2, OMIM:613254
    • tuberous sclerosis 2, MONDO:0013199