Inherited bleeding disorders

Gene: TPM4

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.

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

• 28134622

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