Activity
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| Retinal disorders v8.56 | MCDR3 | Ida Ertmanska changed review comment from: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.; to: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels currently only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.56 | MCDR3 | Ida Ertmanska changed review comment from: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.; to: Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels may only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.56 | MCDR3 |
Ida Ertmanska Source Literature was removed from Region: MCDR3. Source NHS GMS was added to Region: MCDR3. Phenotypes for Region: MCDR3 were changed from Macular Dystrophy to Macular dystrophy, retinal, 3, OMIM:608850 Tag curated_removed was added to Region: MCDR3. |
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| Retinal disorders v8.55 | MCDR3 | Ida Ertmanska reviewed Region: MCDR3: Rating: ; Mode of pathogenicity: None; Publications: 28790370; Phenotypes: Macular dystrophy, retinal, 3, OMIM:608850; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.55 | MCDR3 |
Ronnie Wright Region: MCDR3 was added Region: MCDR3 was added to Retinal disorders. Sources: Literature Mode of inheritance for Region: MCDR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: MCDR3 were set to 28790370 Phenotypes for Region: MCDR3 were set to Macular Dystrophy Penetrance for Region: MCDR3 were set to Complete Review for Region: MCDR3 was set to GREEN Region: MCDR3 was marked as current diagnostic Added comment: The precise 'critical' region and the aetiological mechanism by which this duplication causes disease is not fully understood, yet the coordinates specified above reflect the 'British' origin variant at the MCDR3 locus (for which the greatest evidence is available - segregating in multiple families), identified by Cipriani et al (PMID:28790370). OMIM #608850 Sources: Literature |
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