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Facial papules

Gene: TSC2

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Facial angiofibromas are a characteristic feature of the tuberous sclerosis
Sources: Expert list
Created: 18 Jun 2023, 11:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
tuberous sclerosis MONDO:0001734

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Jun 2023, 11:14 p.m.

Panel version: 0.10

History Filter Activity

18 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TSC2 was added gene: TSC2 was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC2 were set to 20301399 Phenotypes for gene: TSC2 were set to tuberous sclerosis MONDO:0001734 Review for gene: TSC2 was set to GREEN gene: TSC2 was marked as current diagnostic