Inherited bleeding disorders

Gene: TPM4

Amber List (moderate evidence)

TPM4 (tropomyosin 4)
EnsemblGeneIds (GRCh38): ENSG00000167460
EnsemblGeneIds (GRCh37): ENSG00000167460
OMIM: 600317, Gene2Phenotype
TPM4 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Green to Amber. This gene was rated as Green due to NIHRBR-RD BRIDGE project initially reporting two independent pedigrees plus a mouse model. However, it was subsequently found (pers. comm., Karyn Megy) that one of the pedigrees actually carried an ACTN1 variant, so TPM4 no longer has enough evidence to support gene-disease association to rate as Green, so needs to be demoted to Amber.
Created: 18 Sep 2018, 9:38 a.m.
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:46 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, TPM4 only a Bleeding Platelet Disorder if high impact. Observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.

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

Phenotypes
Platelet disorder; Macrothrombocytopenia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Platelet disorder
  • Macrothrombocytopenia
OMIM
600317
Clinvar variants
Variants in TPM4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tpm4 has been classified as Amber List (Moderate Evidence).

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

TPM4 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene

9 Aug 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

TPM4 was created by BRIDGE