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  2. Bleeding and Platelet Disorders
  3. TLN1
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Bleeding and Platelet Disorders

Gene: TLN1

Red List (low evidence)
TLN1 (talin 1)
EnsemblGeneIds (GRCh38): ENSG00000137076
EnsemblGeneIds (GRCh37): ENSG00000137076
OMIM: 186745, Gene2Phenotype
TLN1 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England)

Red List (low evidence)

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
Created: 3 Mar 2023, 7:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
thrombocytopenia, MONDO:0002049

Publications

Created: 3 Mar 2023, 7:25 a.m.

Panel version: 1.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • thrombocytopenia, MONDO:0002049, TLN1-related
OMIM
186745
Clinvar variants
Variants in TLN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tln1 has been classified as Red List (Low Evidence).

9 Mar 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TLN1 were changed from thrombocytopenia, MONDO:0002049 to thrombocytopenia, MONDO:0002049, TLN1-related

9 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tln1 has been classified as Red List (Low Evidence).

3 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England)

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