Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Mosaic skin disorders - deep sequencing v3.20 TSC2 Ida Ertmanska Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, OMIM: 613254; tuberous sclerosis 2, MONDO:0013199
Mosaic skin disorders - deep sequencing v3.19 TSC2 Ida Ertmanska Publications for gene: TSC2 were set to PMID: 37356622
Mosaic skin disorders - deep sequencing v3.18 TSC2 Ida Ertmanska Mode of inheritance for gene: TSC2 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.17 TSC2 Ida Ertmanska Classified gene: TSC2 as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v3.17 TSC2 Ida Ertmanska Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v3.16 TSC2 Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TSC2.
Tag Q4_25_NHS_review tag was added to gene: TSC2.
Mosaic skin disorders - deep sequencing v3.16 TSC2 Ida Ertmanska commented on gene: TSC2: Comment on list classification: There are numerous individuals reported in literature diagnosed with Tuberous sclerosis complex, harbouring heterozygous mosaic TSC2 variants. Variants are sometimes detected in skin biopsy samples only - not in blood or saliva. Deep sequencing of multiple patient samples is advised, as the variants often occur at very low frequencies (down to <1%). Based on the available evidence, TSC2 should be promoted to Green for Mosaic skin disorders - deep sequencing.
Mosaic skin disorders - deep sequencing v3.16 TSC2 Ida Ertmanska reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26540169, 31160751, 31114024, 32461669, 37141891, 37356622; Phenotypes: Tuberous sclerosis-2, OMIM: 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing v3.16 TSC1 Ida Ertmanska changed review comment from: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, and shagreen patch (PMID: 37141891).

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%).
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of 53 patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method. All 53 TSC patients had skin involvement.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).; to: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, and shagreen patch (PMID: 37141891).

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%). Variants are sometimes detected in skin biopsy samples only - not in blood or saliva.
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of 53 patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method. All 53 TSC patients had skin involvement.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).
Mosaic skin disorders - deep sequencing v3.11 TSC1 Ida Ertmanska changed review comment from: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, shagreen patch.

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%).
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).; to: Tuberous sclerosis complex present with hamartomatous tumors affecting multiple organs, including the skin: facial angiofibroma, ungual fibroma, and shagreen patch (PMID: 37141891).

PMID: 37356622 Blasco-Perez et al., 2023
Cohort of Tuberous sclerosis complex (TSC) patients. Seq method: deep coverage NGS seq of TSC1 and TSC2 - average coverage >400x. 8/29 variants were detected in mosaicism, 4 at extremely low levels ( <16%).
Patients with TSC1 variants:
10 non-mosaic heterozygous cases;
Patient 6: mosaic variant TSC1:c.994del, p.Ser332Profs∗6; variant detected in saliva (36%) and affected skin (42%); blood sequencing not performed
Patient 12: mosaic variant TSC1:c.2101_2107del, p.Gln701Serfs∗21 - 4% in peripheral blood

PMID: 37141891 Klonowska et al., 2023
Cohort of 95 individuals with TSC and confirmed mosaicism. Method: Deep massively parallel sequencing (MPS) (median read depth ≥ 500×). 9/95 individuals had variants in TSC1, and 86/95 patients had variants detected in TCS2.
The cohort included patients previously reported in PMID: 26540169 Tyburczy et al., 2015, as well as PMID: 31160751 Giannikou et al., 2019; PMID: 31114024 Treichel et al., 2019; PMID: 32461669 Ogorek et al., 2020.

PMID: 26540169 Tyburczy et al., 2015
Cohort of 53 patients with TSC and no mutation identified in previous testing. Median read depth was ≥ 5,000x for long-range PCR, and ≥ 500x in hybrid capture method. All 53 TSC patients had skin involvement.
Reported 4 patients with non-mosaic heterozygous TSC1 variants (allele freq = 50%), as well as 4 mosaic cases (allele freq <50%):
P53: 22yo male; TSC1 c.1776delG - 30% mutant allele in saliva and blood
P2: 20yo male; c.2689C>T; p.Q897* in TSC1 - 15% mutant allele in blood
P6: 4yo male; TSC1 c.2111_2112delAT - 4.7% in blood and normal skin
P5f: 57yo female; TSC1 c.2374C>T; p.Q792* - 3.3% in blood

This gene is associated with AD Tuberous sclerosis-1, MIM:191100 in OMIM (accessed 3rd Dec 2025).
Mosaic skin disorders - deep sequencing v3.1 TSC2 Veronica Kinsler edited their review of gene: TSC2: Changed phenotypes to: Cutaneous pigmentary abnormalities, and/or other aspects of germline TSC disease
Mosaic skin disorders - deep sequencing v3.1 TSC2 Veronica Kinsler gene: TSC2 was added
gene: TSC2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: TSC2 was set to Other
Publications for gene: TSC2 were set to PMID: 37356622
Review for gene: TSC2 was set to GREEN
Added comment: Mosaic, potential for transmission to offspring in germline
Sources: Expert Review