Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Bleeding and Platelet Disorders v2.0 TLN1 Gene migrated from ENSG00000137076 to ENSG00000137076 (gene set migration)
Bleeding and Platelet Disorders v1.62 TLN1 Zornitza Stark Publications for gene: TLN1 were set to 35861643
Bleeding and Platelet Disorders v1.61 TLN1 Zornitza Stark Classified gene: TLN1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v1.61 TLN1 Zornitza Stark Gene: tln1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v1.60 TLN1 Lucy Spencer reviewed gene: TLN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 40960860; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.18 TLN1 Zornitza Stark Marked gene: TLN1 as ready
Bleeding and Platelet Disorders v1.18 TLN1 Zornitza Stark Gene: tln1 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.18 TLN1 Zornitza Stark Phenotypes for gene: TLN1 were changed from thrombocytopenia, MONDO:0002049 to thrombocytopenia, MONDO:0002049, TLN1-related
Bleeding and Platelet Disorders v1.17 TLN1 Zornitza Stark Classified gene: TLN1 as Red List (low evidence)
Bleeding and Platelet Disorders v1.17 TLN1 Zornitza Stark Gene: tln1 has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v1.16 TLN1 Achchuthan Shanmugasundram gene: TLN1 was added
gene: TLN1 was added to Bleeding and Platelet Disorders. Sources: Literature
Mode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TLN1 were set to 35861643
Phenotypes for gene: TLN1 were set to thrombocytopenia, MONDO:0002049
Review for gene: TLN1 was set to RED
Added comment: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient generally had a platelet count of <20 000/mcL, but without significant bleeding. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents.
Sources: Literature