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BabyScreen+ newborn screening

Gene: TSC2

Red List (low evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 20 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Treatment is symptomatic.
Created: 23 Nov 2022, 6:29 a.m. | Last Modified: 23 Nov 2022, 6:29 a.m.
Panel Version: 0.1049

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tuberous sclerosis-2 MIM#613254

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Definitive gene disease association
Childhood onset; abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia).
Treatment: mTOR inhibitors, vigabatrin, cannabidiol
Created: 15 Nov 2022, 2:17 a.m. | Last Modified: 15 Nov 2022, 2:17 a.m.
Panel Version: 0.890

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tuberous sclerosis-2 MIM#613254

Publications

History Filter Activity

23 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsc2 has been classified as Red List (Low Evidence).

23 Nov 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: TSC2.

16 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsc2 has been classified as Green List (High Evidence).

16 Nov 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSC2 were set to

16 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TSC2.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSC2 was added gene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2, MIM#613254