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| Mendeliome v1.3138 | BAIAP3 | Zornitza Stark Marked gene: BAIAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3138 | BAIAP3 | Zornitza Stark Gene: baiap3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3138 | BAIAP3 |
Zornitza Stark gene: BAIAP3 was added gene: BAIAP3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BAIAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAIAP3 were set to 40943168 Phenotypes for gene: BAIAP3 were set to Retinitis pigmentosa MONDO:0019200, BAIAP3-related Review for gene: BAIAP3 was set to RED Added comment: 1 individual with retinitis pigmentosa with onset at 18yrs. Trio WGS identified biallelic missense variants in BAIAP3 gene (c.556C>G [p.Arg186Gly] and c.3099C>G [p.His1033Gln]). Both variants were very rare in gnomAD, and the healthy brother was heterozygous for one variant. BAIAP3 interacts with SNARE proteins, whose function is essential for endosome-mediated retrograde trafficking. Single-cell RNA sequencing profiling showed enhanced expression of the BAIAP3 gene in ciliated cells, astrocytes, excitatory and inhibitory neurons, and enteroendocrine cells. Confocal microscopy analysis showed elongated cilia in patient-derived and BAIAP3-depleted fibroblasts compared to control cells. Sources: Literature |
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