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| Syndromic Retinopathy v0.104 | GRN | Zornitza Stark changed review comment from: Bi-allelic variants cause CLN, retinal degeneration prominent. However, also reports of retinal abnormalities with mono-allelic variants, which are typically associated with a frontotemporal dementia phenotype.; to: Bi-allelic variants cause CLN, retinal degeneration prominent. However, also limited reports of retinal abnormalities with mono-allelic variants, which are typically associated with a frontotemporal dementia phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.104 | GRN | Zornitza Stark Publications for gene: GRN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.103 | GRN | Zornitza Stark edited their review of gene: GRN: Added comment: Bi-allelic variants cause CLN, retinal degeneration prominent. However, also reports of retinal abnormalities with mono-allelic variants, which are typically associated with a frontotemporal dementia phenotype.; Changed publications: 31855245, 28404863, 30922528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.88 | GRN | Zornitza Stark Marked gene: GRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.88 | GRN | Zornitza Stark Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.88 | GRN | Zornitza Stark Classified gene: GRN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.88 | GRN | Zornitza Stark Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.87 | GRN |
Zornitza Stark gene: GRN was added gene: GRN was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, OMIM #614706 Review for gene: GRN was set to GREEN Added comment: Retinal degeneration is part of the phenotype. Sources: Expert Review |
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