Structural eye disease
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Removed the NHS review tag as although the expert reviewer is from the NHS this gene is not being considered for promotion to green.Created: 6 Oct 2022, 3:19 p.m. | Last Modified: 6 Oct 2022, 3:19 p.m.
Panel Version: 1.149
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Bacci et al. 2020 reported two unrelated individuals with heterozygous variants and iris coloboma, a boy with a canonical splice site variant and a girl with a stopgain variant, inheritance not reported. Rowley et al. 2001 report colobomas in 3/100 individuals with tuberous sclerosis, molecular confirmation not done.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous Sclerosis
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber. There is currently not enough evidence to support a gene-disease association.Created: 1 Mar 2022, 3:53 p.m. | Last Modified: 1 Mar 2022, 3:53 p.m.
Panel Version: 1.109
Sources: Expert listCreated: 20 Jan 2022, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis-2, OMIM:613254
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Tuberous sclerosis-2, OMIM:613254
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Structural eye disease
- Childhood solid tumours
- Pneumothorax - familial
- Fetal anomalies
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Cystic kidney disease
- Early onset or syndromic epilepsy
- Unexplained kidney failure in young people
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q1_22_NHS_review was removed from gene: TSC2.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TSC2 was added gene: TSC2 was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: TSC2. Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TSC2 were set to 33110010; 11264130 Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, OMIM:613254 Review for gene: TSC2 was set to AMBER