Cytopenia - NOT Fanconi anaemia

Gene: KIF23

The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that KIF23 should be amber.

Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:56 a.m.

Panel Version: 1.57

Comment on list classification: Literature search showed KIF23 is a widely accepted cause of CDA type III, albeit only two families with the same variant have been published.

Furthermore, current Green rating is based on consensus from GLHs, so will remain Green. However, this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).

Created: 29 Sep 2020, 1:05 p.m. | Last Modified: 29 Sep 2020, 1:07 p.m.

Panel Version: 1.17

To date, only one heterozygous missense variant (c.2747C>G, p.P916R) in the KIF23 gene has been reported as the cause of CDA type III.

PMID: 23570799 (2013) - Authors mapped this variant in two unrelated previously described Swedish (PMID:7711721) and American (PMID:14886400) families with multiple affected individuals. The variant segregated with the phenotype in each family, and functional studies indicated it impairs function of the protein product in cytokinesis.

Created: 29 Sep 2020, 12:56 p.m. | Last Modified: 29 Sep 2020, 12:56 p.m.

Panel Version: 1.16

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

Phenotypes
Congenital dyserythropoietic anemia type III

Publications

• 23570799

Red List (low evidence)

Single family reported only.

Created: 14 Sep 2020, 12:32 a.m. | Last Modified: 14 Sep 2020, 12:32 a.m.

Panel Version: 1.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital dyserythropoietic anemia type III

Publications

• 23570799

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.

Created: 18 Feb 2019, 2:55 p.m.

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

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

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.

Created: 22 Jul 2019, 1:29 p.m. | Last Modified: 22 Jul 2019, 1:29 p.m.

Panel Version: 0.84

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): none submitted

Created: 18 Feb 2019, 2:57 p.m.

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: KIF23; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA); PMID(s): 23570799;7711721;7323912

Created: 6 Feb 2019, 3:13 p.m.

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.

Created: 6 Feb 2019, 3:12 p.m.

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