ACTN1

actinin alpha 1
OMIM: 102575, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ACTN1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.175

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Macrothrombocytopenia
Green ACTN1 in Bleeding and platelet disorders


Version 3.7
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
Phenotypes
  • 615193 Bleeding disorder, platelet-type, 15
Amber ACTN1 in Cytopenia - NOT Fanconi anaemia


Version 3.21
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert review Amber
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Bleeding disorder, platelet-type, 15, 615193
  • Macrothrombocytopenia
Green ACTN1 in Severe Paediatric Disorders


Version 1.182

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 15, 615193