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| Syndromic Retinopathy v1.0 | PISD | Gene migrated from ENSG00000241878 to ENSG00000241878 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.55 | PISD |
Bryony Thompson gene: PISD was added gene: PISD was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 31263216 Phenotypes for gene: PISD were set to Liberfarb syndrome MIM#618889 Review for gene: PISD was set to RED Added comment: Retinal degeneration is reported in two families with the same homozygous variant and an apparently common ancestor, based on haplotype analysis. Sources: Expert list |
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