PanelApp (stage)
  1. Genes and Genomic Entities
  2. TSC1

TSC1

TSC complex subunit 1
OMIM: 605284, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green TSC1 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.48

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Tuberous sclerosis-1, 191100
    • Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341
    Tags
    • SV/CNV

    Green TSC1 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.198

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TSC1 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.96

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Tuberous sclerosis 1, MIM# 191100

    Amber TSC1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Tuberous sclerosis-1 MIM#191100

    Green TSC1 in Incidentalome


    Version 0.301

    		review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TSC1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green TSC1 in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 0.69

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • KidGen_Cystic v38.1.0

    Green TSC1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Tuberous sclerosis 1, MIM# 191100

    Green TSC1 in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Tuberous sclerosis-1, MIM# 191100

    Green TSC1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Tuberous sclerosis MIM#191100

    Red TSC1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review Not set
    Sources
    • Emory Genetics Laboratory

    Red TSC1 in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Tuberous sclerosis 1

    Red TSC1 in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Tuberous sclerosis 1

    Red TSC1 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Tuberous sclerosis 1

    Green TSC1 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tuberous sclerosis-1 191100
    • Lymphangioleiomyomatosis 606690
    • Focal cortical dysplasia, type II, somatic 607341

    Green TSC1 in Renal cancer


    Level 2: Cancer susceptibility
    Version 0.4

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • SA Pathology
    Phenotypes
    • Tuberous sclerosis 1

    Green TSC1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Tuberous sclerosis 1

    Green TSC1 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Tuberous sclerosis-1, MIM# 191100
    Tags
    • somatic

    Green TSC1 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Tuberous sclerosis-1, MIM# 191100

    Green TSC1 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.14

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • GREP
    • Expert Review Green
    Phenotypes
    • Focal cortical dysplasia, type II, somatic 607341
    • Tuberous sclerosis-1 191100

    Red TSC1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Tuberous sclerosis 1, MIM#191100

    Green TSC1 in Pneumothorax

    Level 3: Structural lung disorders
    Level 2: Respiratory disorders
    Version 0.11

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tuberous sclerosis-1, OMIM:191100
    • Lymphangioleiomyomatosis, OMIM:606690

    Green TSC1 in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • tuberous sclerosis MONDO:0001734

    Green TSC1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Tuberous sclerosis-1, MIM# 191100