MTOR

mechanistic target of rapamycin kinase
OMIM: 601231, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green MTOR in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.48 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes Smith-Kingsmore syndrome, MIM# 616638
Amber MTOR in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital hydrocephalus macrocephaly
Green MTOR in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MTOR in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Green MTOR in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-Kingsmore syndrome, MIM# 616638
Green MTOR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Green MTOR in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MTOR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Red MTOR in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Other	Sources Expert Review Red Expert list Phenotypes Smith-Kingsmore syndrome 616638 Focal cortical dysplasia, type II, somatic 607341 Tags somatic
Amber MTOR in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 1.13 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Other	Sources Expert Review Amber Expert list Expert list Phenotypes Smith-Kingsmore syndrome 616638 Focal cortical dysplasia, type II, somatic 607341
Green MTOR in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Hypomelanosis of Ito/Blaschko-linear hypopigmentation Tags somatic
Green MTOR in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Smith-Kingsmore syndrome, MIM# 616638