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| Anophthalmia_Microphthalmia_Coloboma v1.54 | KIF17 | Lucy Spencer Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.7 | KIF17 | Zornitza Stark Marked gene: KIF17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.7 | KIF17 | Zornitza Stark Gene: kif17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.7 | KIF17 |
Zornitza Stark 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 Added comment: Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development. Sources: Literature |
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