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| Mendeliome v2.0 | TLCD3B | Gene symbol changed from FAM57B to TLCD3B during gene set migration (ENSG00000149926 -> ENSG00000149926) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6768 | FAM57B |
Zornitza Stark gene: FAM57B was added gene: FAM57B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FAM57B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM57B were set to 33077892 Phenotypes for gene: FAM57B were set to Cone–rod dystrophy; Maculopathy Review for gene: FAM57B was set to GREEN Added comment: 4 patients with cone-rod dystrophy or maculopathy from 3 families, with LOF pathogenic variants in TLCD3B (ceramide synthase gene). Ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. Variants segregated with disease. TLCD3B showed high expression in the adult retina with higher expression in the macular than in the peripheral region. Tlcd3bKO/KO mice exhibited a significant reduction of the cone photoreceptor light responses, thinning of the outer nuclear layer, and loss of cone photoreceptors across the retina. Sources: Literature |
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