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| Structural eye disease v1.101 | TBC1D23 | Nicola Ragge reviewed gene: TBC1D23: Rating: AMBER; Mode of pathogenicity: ; Publications: 28823707, 28823706; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.66 | TBC1D23 |
Ivone Leong gene: TBC1D23 was added gene: TBC1D23 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D23 were set to 28823707; 28823706; 32360255 Phenotypes for gene: TBC1D23 were set to coloboma, MONDO:0001476; strabismus, MONDO:0003432 Review for gene: TBC1D23 was set to RED Added comment: PMID:28823707. 2 of 3 unrelated families (4 of 7 affected individuals) had ataxia. 1 family (3 affected individuals) had coloboma and strabismus. 1 family (1 individual) had hyperopia and strabismus. PMID:28823706. 2 of 4 unrelated families (4 of 6 affected individuals) had ataxia. 2 of 6 individuals with eye phenotype (strabismus or esotropia of the left eye). Zebrafish morpholino knockout model showed reduced eye size. PMID: 32360255. 1 case with ataxia. No eye phenotype reported. Despite there being a zebrafish model with an eye phenotype, there is only 1 family out of 8 who had coloboma, therefore this gene is given a Red rating until more evidence is available. Sources: Literature |
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