| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinal disorders v2.4 | REEP6 | Ivone Leong Classified gene: REEP6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.4 | REEP6 | Ivone Leong Gene: reep6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.3 | REEP6 |
Ivone Leong Source Expert Review Amber was added to REEP6. Source RetNet was added to REEP6. Source NHS GMS was added to REEP6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Retinal disorders v1.149 | REEP6 | Ivone Leong Classified gene: REEP6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.149 | REEP6 |
Ivone Leong Added comment: Comment on list classification: No gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 27889058 reported on 7 people from 5 unrelated families with retinitis pigmentosa (three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1). The publication also includes a knockin mouse model, which mimicked the human disease phenotype. PMID: 30101608; 28475715; 28369466; 24691551 further describes the mechanisms by which REEP6 cause RP. This gene has been given green status based on the evidence provided by the reviewer. |
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| Retinal disorders v1.149 | REEP6 | Ivone Leong Gene: reep6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.145 | REEP6 | Ivone Leong Phenotypes for gene: REEP6 were changed from retinitis pigmentosa to retinitis pigmentosa; Retinitis pigmentosa 77, 617304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.144 | REEP6 | Ivone Leong Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.139 | REEP6 |
Andrew Webster gene: REEP6 was added gene: REEP6 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551 Phenotypes for gene: REEP6 were set to retinitis pigmentosa Penetrance for gene: REEP6 were set to Complete Review for gene: REEP6 was set to GREEN Added comment: Sources: Literature |
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