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Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Classified gene: PPT1 as Green List (high evidence)
Syndromic Retinopathy v0.90 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.89 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Syndromic Retinopathy. Sources: Expert Review
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Review for gene: PPT1 was set to GREEN
Added comment: Retinal degeneration is part of the phenotype.
Sources: Expert Review