Genomics England

MTOR

mechanistic target of rapamycin kinase

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	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 5.10	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 4.0	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 6.13	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 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Focal cortical dysplasia, type II, somatic 607341
Green in Mosaic brain disorders - deep sequencing R-numbers: R429 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Focal cortical dysplasia, type II, somatic, OMIM:607341, Smith-Kingsmore syndrome, OMIM:616638
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