Cytopenia - NOT Fanconi anaemia
Gene: ACTN1
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Macrothrombocytopenia; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: Clearly associated with thromboctopenia - not always with bleeding phenotype.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Source Expert Review Amber was added to ACTN1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to ACTN1.
Mode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Bleeding disorder, platelet-type, 15, 615193; Macrothrombocytopenia for gene: ACTN1
gene: ACTN1 was added gene: ACTN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: ACTN1 was set to