TSC1

TSC complex subunit 1
OMIM: 605284, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green TSC1 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TSC1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 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 2.0

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

Green TSC1 in Incidentalome


Version 1.0

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

Green TSC1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TSC1 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 1.0

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

Green TSC1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 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 2.0

1 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 2.0

1 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 1.0

0 reviews Not set
Sources
  • Emory Genetics Laboratory

Green TSC1 in Lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 1.0

0 reviews 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 Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews 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 2.0

2 reviews 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 2.0

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

Red TSC1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews 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 2.0

1 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 2.0

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

Green TSC1 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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

Green TSC1 in Kidney Cancer


Level 2: Cancer Predisposition
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • Tuberous sclerosis 1, MONDO:0008612
  • Tuberous sclerosis-1, MIM#191100