TPM4

tropomyosin 4
OMIM: 600317, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber TPM4 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Platelet disorder
  • Macrothrombocytopenia
Green TPM4 in Bleeding and platelet disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Tags
  • gene-checked
Amber TPM4 in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330