ACTN1

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green ACTN1 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 Green BRIDGE Study Tier 1 Gene Phenotypes Macrothrombocytopenia
Green ACTN1 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 Phenotypes 615193 Bleeding disorder, platelet-type, 15
Amber ACTN1 in Cytopenia - NOT Fanconi anaemia Version 3.33 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 1.184	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