Pigmentary skin disorders

Gene: TSC1

Green List (high evidence)

TSC1 (TSC complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 25 panels

2 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Variants in this gene are a cause of Tuberous Sclerosis which is characterised by pigmentary abnormalities, classically hypomelanotic macules and confetti skin lesions, among other features.
Created: 17 Apr 2019, 6:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tuberous sclerosis-1

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TSC1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TSC1.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TSC1 was added gene: TSC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC1 were set to Tuberous sclerosis