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Retinal disorders v2.243 | ABCC6 | Ivone Leong Tag for-review was removed from gene: ABCC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | ABCC6 | Ivone Leong commented on gene: ABCC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | ABCC6 |
Ivone Leong Source Expert Review Green was added to ABCC6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Retinal disorders v2.38 | ABCC6 | Ivone Leong edited their review of gene: ABCC6: Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and expert reviews, this gene should be promoted to Green at the next review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.38 | ABCC6 | Ivone Leong Tag for-review tag was added to gene: ABCC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.38 | ABCC6 | Ivone Leong Mode of inheritance for gene: ABCC6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.37 | ABCC6 | Ivone Leong Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum, OMIM:264800; inherited pseudoxanthoma elasticum, MONDO:0100091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.17 | ABCC6 | Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.8 | ABCC6 | Gavin Arno reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PSEUDOXANTHOMA ELASTICUM (PXE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.5 | ABCC6 | Ivone Leong reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.3 | ABCC6 |
Ivone Leong gene: ABCC6 was added gene: ABCC6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ABCC6 was set to |