Cytopenias and congenital anaemias
Gene: ANKRD26
Comment when marking as ready: Phenotype not appropriate (isolated platelet anomaly)Created: 28 Feb 2017, 1:08 p.m.
Comment on list classification: Not appropriate to phenotypic inclusion. It is on the inherited bleeding disorders panel which is appropriateCreated: 28 Feb 2017, 1:07 p.m.
Sufficient evidence of causation for AD thromobocytopaenia. However, this phenotype does not fit with the inclusion criteria. Therefore considered amber, although appropriate if the inclusion is widened to isolated platelet disorders. Please note that the mutations to date have been located in a clustered (19bp) region in the 5'UTR.Created: 28 Feb 2017, 10:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombocytopenia 2 188000
Publications
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Publications for ANKRD26 were set to 21211618
This gene has been classified as Red List (Low Evidence).
ANKRD26 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list
ANKRD26 was created by LouiseD