Structural eye disease
Gene: KIF17Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support gene-disease association. This gene has been given a Red rating.Created: 15 Jun 2021, 1:42 p.m. | Last Modified: 15 Jun 2021, 1:42 p.m.
Panel Version: 1.73
Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development.
Sources: LiteratureCreated: 13 Jun 2021, 6:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia; Coloboma
Publications
Gene: kif17 has been classified as Red List (Low Evidence).
Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, MONDO:0021129; Coloboma, MONDO:0001476
gene: KIF17 was added gene: KIF17 was added to Structural eye disease. 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