TSC2

TSC complex subunit 2
OMIM: 191092
PanelMode of inheritanceDetails
11 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis type 2
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TUBEROUS SCLEROSIS TYPE 2 613254, LYMPHANGIOLEIOMYOMATOSIS 606690
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LYMPHANGIOLEIOMYOMATOSIS, TUBEROUS SCLEROSIS TYPE 2
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341, Tuberous sclerosis-2 613254
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690, LYMPHANGIOLEIOMYOMATOSIS (LAM)
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis, TUBEROUS SCLEROSIS 2, TSC2
R-numbers: R190
Signed-off version 2.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lymphangioleiomyomatosis (LAM), Tuberous sclerosis complex (TSC), Lymphangioleiomyomatosis, Tuberous sclerosis 2, 613254
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis, somatic 606690, Tuberous sclerosis-2 613254
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
613254, Tuberous sclerosis type 2
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis-2 613254