Genomics England
GMS Panels
Panels
Genes and Entities

TSC1

TSC complex subunit 1
OMIM: 605284
PanelMode of inheritanceDetails
11 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis type 1
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
191100, Tuberous sclerosis type 1
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TUBEROUS SCLEROSIS TYPE 1 191100
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341, Tuberous sclerosis-1 191100
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TUBEROUS SCLEROSIS TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-1, 191100Lymphangioleiomyomatosis, 606690, Focal cortical dysplasia, Taylor balloon cell type, 607341, TUBEROUS SCLEROSIS TYPE 1 (TSC1)
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis, TSC1, TUBEROUS SCLEROSIS 1
Green
in Pneumothorax - familial
R-numbers: R190
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lymphangioleiomyomatosis, OMIM:606690, Tuberous sclerosis-1, OMIM:191100
Green
in Primary lymphoedema
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis 606690, Tuberous sclerosis-1 191100
Green
in Tuberous sclerosis
R-numbers: R228
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes