Genomics England
GMS Panels
Panels
Genes and Entities

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 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Smith-Kingsmore syndrome, OMIM:616638
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
Smith-Kingsmore syndrome, OMIM:616638, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MONDO:0014716, Focal cortical dysplasia, type II, somatic, OMIM:607341isolated focal cortical dysplasia type II, MONDO:0011818
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Smith-Kingsmore syndrome
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, imprinted status unknown
Phenotypes
Smith-Kingsmore syndrome, 616638, Intellectual Disability, Focal cortical dysplasia, type II, somatic 607341
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SKS, SMITH-KINGSMORE SYNDROME, Hypomelanosis of Ito/Blaschko-linear hypopigmentation