TSC2

TSC complex subunit 2
OMIM: 191092
PanelMode of inheritanceDetails
12 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis type 2
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
613254, Tuberous sclerosis type 2
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TUBEROUS SCLEROSIS TYPE 2 613254, LYMPHANGIOLEIOMYOMATOSIS 606690
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341, Tuberous sclerosis-2 613254
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LYMPHANGIOLEIOMYOMATOSIS, TUBEROUS SCLEROSIS TYPE 2
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690, LYMPHANGIOLEIOMYOMATOSIS (LAM)
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis, TUBEROUS SCLEROSIS 2, TSC2
R-numbers: R190
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lymphangioleiomyomatosis, MONDO:0011705, Tuberous sclerosis-2, OMIM:613254
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis, somatic 606690, Tuberous sclerosis-2 613254
R-numbers: R228
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R257
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis-2 613254