Hydrops fetalis
Gene: KIF23

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

2 reviews

George McGillivray (Victorian Clinical Genetics Services)

I don't know

20191230 GM: I can't find any cases of fetuses or newborns with KIF23 related CDAN3 and hydrops. There was no mention of hydrops in the linkage article for the large Swedish family (7711721). There is one case report of a woman with undiagnosed CDAN3 who had a stillborn hydropic baby. However, the baby was not confirmed to have CDAN3 or a KIF23 variant and other causes of hydrops were not excluded. I think this should be amber until netter evidence is available?
Created: 30 Dec 2019, 5:58 a.m. | Last Modified: 30 Dec 2019, 5:58 a.m.

Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital dyserythropoietic anaemia type III

Publications

Created: 30 Dec 2019, 5:58 a.m.
Last Modified: 30 Dec 2019, 5:58 a.m.
Panel version: 0.67

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 30 Dec 2019, 5:49 a.m. | Last Modified: 30 Dec 2019, 5:49 a.m.

Panel Version: 0.63

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital dyserythropoietic anemia

Publications

23570799

Created: 30 Dec 2019, 5:49 a.m.
Last Modified: 30 Dec 2019, 5:49 a.m.
Panel version: 0.63

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Congenital dyserythropoietic anaemia

OMIM

605064

Clinvar variants

Variants in KIF23

Penetrance

None

Publications

23570799

Panels with this gene