1. Panels
  2. Red cell disorders
  3. KIF23
STRs in panel
Prev Next
Regions in panel
Prev Next

Red cell disorders

Gene: KIF23

Amber List (moderate evidence)
KIF23 (kinesin family member 23)
EnsemblGeneIds (GRCh38): ENSG00000137807
EnsemblGeneIds (GRCh37): ENSG00000137807
OMIM: 605064, Gene2Phenotype
KIF23 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second individual reported, elongation variant.
Created: 17 Mar 2022, 9:01 a.m. | Last Modified: 17 Mar 2022, 9:01 a.m.
Panel Version: 1.11
Single family reported only.
Sources: Expert list
Created: 14 Sep 2020, 12:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anaemia, congenital dyserythropoietic, type IIIA 105600

Publications

Created: 14 Sep 2020, 12:31 a.m.

Panel version: 1.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Expert list
Phenotypes
  • Anaemia, congenital dyserythropoietic, type IIIA 105600
OMIM
605064
Clinvar variants
Variants in KIF23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF23 were changed from Congenital dyserythropoietic anemia type III to Anaemia, congenital dyserythropoietic, type IIIA 105600

17 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF23 were set to 23570799

17 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif23 has been classified as Amber List (Moderate Evidence).

10 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif23 has been classified as Red List (Low Evidence).

10 Sep 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF23 were changed from Enzyme Disorder; Anaemia, dyserythropoietic congenital, type III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; CDA III to Congenital dyserythropoietic anemia type III

10 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif23 has been classified as Red List (Low Evidence).

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Enzyme Disorder; Anaemia, dyserythropoietic congenital, type III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; CDA III for gene: KIF23

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF23 was added gene: KIF23 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF23 were set to 23570799 Phenotypes for gene: KIF23 were set to Anaemia, dyserythropoietic congenital, type III; Enzyme Disorder; CDA III; Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; Congenital dyserythropoietic anemia (CDA)