Anophthalmia_Microphthalmia_Coloboma
Gene: KIF17

KIF17 (kinesin family member 17)
EnsemblGeneIds (GRCh38): ENSG00000117245
EnsemblGeneIds (GRCh37): ENSG00000117245
OMIM: 605037, Gene2Phenotype
KIF17 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development.
Sources: Literature
Created: 13 Jun 2021, 6:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia; Coloboma

Publications

Created: 13 Jun 2021, 6:05 a.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Microphthalmia
Coloboma

OMIM

605037

Clinvar variants

Variants in KIF17

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kif17 has been classified as Red List (Low Evidence).

13 Jun 2021, Gel status: 1

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