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| Mendeliome v1.1739 | SLC4A7 | Zornitza Stark Marked gene: SLC4A7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1739 | SLC4A7 | Zornitza Stark Gene: slc4a7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1739 | SLC4A7 | Zornitza Stark Phenotypes for gene: SLC4A7 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC4A7-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1738 | SLC4A7 | Chirag Patel Classified gene: SLC4A7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1738 | SLC4A7 | Chirag Patel Gene: slc4a7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1737 | SLC4A7 |
Chirag Patel gene: SLC4A7 was added gene: SLC4A7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC4A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A7 were set to PMID: 35486108, 32594822 Phenotypes for gene: SLC4A7 were set to Retinitis pigmentosa, MONDO:0019200 Review for gene: SLC4A7 was set to AMBER Added comment: Total 4 individuals from 3 families (2 known to be from same ethnic origin: Oriental-Jewish) with adult onset retinitis pigmentosa. All individuals had same homozygous frameshift variant in SLC4A7 gene (p.P670Sfs*6). RNA seq analysis revealed retinal expression in human and mouse samples. Immunohistochemistry of human and mouse retina revealed relatively strong expression in various retinal layers. Western blot analysis in fibroblasts from 1 patient showed absence of encoded protein. Sources: Literature |
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