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Mendeliome

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, 8:59 a.m. | Last Modified: 17 Mar 2022, 8:59 a.m.
Panel Version: 0.11508
Single family reported.
Created: 30 Dec 2019, 5:54 a.m. | Last Modified: 30 Dec 2019, 5:54 a.m.
Panel Version: 0.455

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anaemia, congenital dyserythropoietic, type IIIA 105600

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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 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).

30 Dec 2019, 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).

30 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KIF23 were changed from to Congenital dyserythropoietic anemia

30 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KIF23 were set to

30 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KIF23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

30 Dec 2019, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF23 was added gene: KIF23 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KIF23 was set to Unknown