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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.73 | NEUROD1 | Zornitza Stark Marked gene: NEUROD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.73 | NEUROD1 | Zornitza Stark Gene: neurod1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.73 | NEUROD1 | Zornitza Stark Phenotypes for gene: NEUROD1 were changed from ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.72 | NEUROD1 |
Zornitza Stark changed review comment from: Mono-allelic variants in this gene are associated with MODY. Rare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals.; to: Mono-allelic variants in this gene are associated with MODY. Rare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals. Functional data to support gene's role in retina. |
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.72 | NEUROD1 | Zornitza Stark edited their review of gene: NEUROD1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.72 | NEUROD1 | Zornitza Stark reviewed gene: NEUROD1: Rating: ; Mode of pathogenicity: None; Publications: 25477324, 25684977, 22784109, 29521454; Phenotypes: Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | NEUROD1 |
Bryony Thompson gene: NEUROD1 was added gene: NEUROD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 25477324; 29521454; 25684977 Phenotypes for gene: NEUROD1 were set to ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy |
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