Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Early onset or syndromic epilepsy v2.563 TFE3 Arina Puzriakova Phenotypes for gene: TFE3 were changed from TFE3-related intellectual disability with pigmentary mosaicism to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066
Early onset or syndromic epilepsy v2.518 TFE3 Helen Lord reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v2.491 TFE3 Sarah Leigh Tag for-review was removed from gene: TFE3.
Early onset or syndromic epilepsy v2.491 TFE3 Sarah Leigh commented on gene: TFE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 TFE3 Sarah Leigh Source Expert Review Green was added to TFE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.227 TFE3 Arina Puzriakova Tag Skewed X-inactivation tag was added to gene: TFE3.
Early onset or syndromic epilepsy v2.227 TFE3 Arina Puzriakova Phenotypes for gene: TFE3 were changed from to TFE3-related intellectual disability with pigmentary mosaicism
Early onset or syndromic epilepsy v2.226 TFE3 Arina Puzriakova Mode of inheritance for gene: TFE3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v2.215 TFE3 Sarah Leigh Publications for gene: TFE3 were set to 30595499; 31833172; https://doi.org/10.1126/scisignal.aax0926
Early onset or syndromic epilepsy v2.214 TFE3 Sarah Leigh Tag for-review tag was added to gene: TFE3.
Early onset or syndromic epilepsy v2.214 TFE3 Sarah Leigh reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30595499, 31833172, 32409512; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v2.207 TFE3 Sarah Leigh Publications for gene: TFE3 were set to 30595499; 31833172; https://doi.org/10.1126/scisignal.aax0926
Early onset or syndromic epilepsy v2.207 TFE3 Sarah Leigh Publications for gene: TFE3 were set to
Early onset or syndromic epilepsy v2.0 TFE3 Konstantinos Varvagiannis reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 31833172, https://doi.org/10.1126/scisignal.aax0926; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of skin pigmentation, Coarse facial features, Seizures; Mode of inheritance: Other
Early onset or syndromic epilepsy v1.191 TFE3 Rebecca Foulger Source Wessex and West Midlands GLH was added to TFE3.
Early onset or syndromic epilepsy v1.190 TFE3 Rebecca Foulger Source NHS GMS was added to TFE3.
Early onset or syndromic epilepsy v1.189 TFE3 Rebecca Foulger reviewed gene: TFE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 TFE3 Tracy Lester reviewed gene: TFE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal cell carcinoma, papillary, 300854; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v0.470 TFE3 Sarah Leigh Marked gene: TFE3 as ready
Early onset or syndromic epilepsy v0.470 TFE3 Sarah Leigh Gene: tfe3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy TFE3 Zornitza Stark reviewed gene: TFE3
Early onset or syndromic epilepsy TFE3 Sarah Leigh Added gene to panel