MTOR

mechanistic target of rapamycin kinase
OMIM: 601231
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY, Smith-Kingsmore syndrome
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Smith-Kingsmore syndrome
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic
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, imprinted status unknown
Phenotypes
Smith-Kingsmore syndrome, 616638, Intellectual Disability, Focal cortical dysplasia, type II, somatic 607341
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypomelanosis of Ito/Blaschko-linear hypopigmentation
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SKS, SMITH-KINGSMORE SYNDROME, Hypomelanosis of Ito/Blaschko-linear hypopigmentation