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  2. Bleeding and Platelet Disorders
  3. TPM4
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Bleeding and Platelet Disorders

Gene: TPM4

Green List (high evidence)
TPM4 (tropomyosin 4)
EnsemblGeneIds (GRCh38): ENSG00000167460
EnsemblGeneIds (GRCh37): ENSG00000167460
OMIM: 600317, Gene2Phenotype
TPM4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets.
Sources: Expert list
Created: 16 Aug 2020, 8:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bleeding disorder, platelet-type, 25, MIM# 620486

Publications

Created: 16 Aug 2020, 8:09 a.m.

Panel version: 1.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 25, MIM# 620486
OMIM
600317
Clinvar variants
Variants in TPM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 25, MIM# 620486

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpm4 has been classified as Green List (High Evidence).

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpm4 has been classified as Green List (High Evidence).

16 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPM4 was added gene: TPM4 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TPM4 were set to 28134622; 31249973; 21153663 Phenotypes for gene: TPM4 were set to Macrothrombocytopenia Review for gene: TPM4 was set to GREEN