Bleeding and platelet disorders
Gene: TLN1
TLN1 (talin 1)
EnsemblGeneIds (GRCh38): ENSG00000137076
EnsemblGeneIds (GRCh37): ENSG00000137076
OMIM: 186745, Gene2Phenotype
TLN1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000137076
EnsemblGeneIds (GRCh37): ENSG00000137076
OMIM: 186745, Gene2Phenotype
TLN1 is in 2 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
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: LiteratureCreated: 3 Mar 2023, 7:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
thrombocytopenia, MONDO:0002049
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- thrombocytopenia, MONDO:0002049
- OMIM
- 186745
- Clinvar variants
- Variants in TLN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Mar 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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