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Classical tuberous sclerosis

Gene: TSC2

Green List (high evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 26 panels

2 reviews

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
613254

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for Tuberous Sclerosis Type 2, and has a green review.
Created: 6 May 2016, 9:55 a.m.

History Filter Activity

6 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TSC2 were set to Tuberous sclerosis-2, 613254; Tuberous Sclerosis

6 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TSC2 were set to PMID: 17304050

6 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TSC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TSC2 was added to Classical tuberous sclerosispanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

TSC2 was added to Classical tuberous sclerosispanel. Sources: Eligibility Statements for GeL

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

TSC2 was added to Classical tuberous sclerosispanel. Sources: UKGTN

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TSC2 was added to Classical tuberous sclerosispanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TSC2 was added to Classical tuberous sclerosispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TSC2 was added to Classical tuberous sclerosispanel. Sources: Radboud University Medical Center, Nijmegen