Anophthalmia_Microphthalmia_Coloboma

Gene: KIF17

Red List (low evidence)

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

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KIF17 was added gene: KIF17 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: KIF17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF17 were set to 33922911; 30458707; 28341548 Phenotypes for gene: KIF17 were set to Microphthalmia; Coloboma Review for gene: KIF17 was set to RED