Cytopenias and congenital anaemias
Gene: KIF23Comment on list classification: Changed status from red to green due to evidence of three unrelated families with the phenotype of CDA IIICreated: 3 Mar 2017, 11:24 a.m.
Comment on publications: Found in three unrelated families from Sweden, America (PMID:7711721, 23570799) and Argentina (PMID:7323912)Created: 3 Mar 2017, 11:24 a.m.
Comment on phenotypes: updated phenotypesCreated: 2 Mar 2017, 11:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital dyserythropoietic anemia (CDA); Enzyme Disorder
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for KIF23 were set to 23570799; 7711721; 7323912
Phenotypes for KIF23 were set to Enzyme Disorder; Congenital dyserythropoietic anemia type III; CDA III; Congenital dyserythropoietic anemia (CDA)
Publications for KIF23 were set to 23570799
Publications for KIF23 were set to 23570799
Phenotypes for KIF23 were set to Enzyme Disorder; Congenital dyserythropoietic anemia type III (CDA III);Congenital dyserythropoietic anemia (CDA)
KIF23 was created by LouiseD
KIF23 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN