Cytopenias and congenital anaemias
Gene: KIF23

KIF23 (kinesin family member 23)
EnsemblGeneIds (GRCh38): ENSG00000137807
EnsemblGeneIds (GRCh37): ENSG00000137807
OMIM: 605064, Gene2Phenotype
KIF23 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from red to green due to evidence of three unrelated families with the phenotype of CDA III
Created: 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 phenotypes
Created: 2 Mar 2017, 11:06 a.m.

Created: 2 Mar 2017, 11:06 a.m.

Panel version: 0.298

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital dyserythropoietic anemia (CDA); Enzyme Disorder

Publications

23570799

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN

Phenotypes

Enzyme Disorder
Congenital dyserythropoietic anemia type III
CDA III
Congenital dyserythropoietic anemia (CDA)

OMIM

605064

Clinvar variants

Variants in KIF23

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

3 Mar 2017, Gel status: 4