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  3. MTOR
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Mosaic skin disorders

Gene: MTOR

Green List (high evidence)
MTOR (mechanistic target of rapamycin kinase)
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypomelanosis of Ito/Blaschko-linear hypopigmentation

Created: 18 Feb 2021, 7:44 a.m.
Last Modified: 18 Feb 2021, 7:44 a.m.
Panel version: 0.6

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:06 a.m.
Last Modified: 18 Feb 2021, 6:06 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Tags
somatic
OMIM
601231
Clinvar variants
Variants in MTOR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: MTOR.

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtor has been classified as Green List (High Evidence).

18 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTOR was added gene: MTOR was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MTOR were set to 27159400 Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation