Structural eye disease
Gene: TSC2Removed 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
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
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
Tag Q1_22_NHS_review was removed from gene: TSC2.
Gene: tsc2 has been classified as Amber List (Moderate Evidence).
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