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Retinal disorders v2.243 | IFT172 | Ivone Leong Tag for-review was removed from gene: IFT172. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | IFT172 | Ivone Leong commented on gene: IFT172: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.243 | IFT172 |
Ivone Leong Source Expert Review Green was added to IFT172. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Retinal disorders v2.74 | IFT172 |
Ivone Leong commented on gene: IFT172: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough data to support a gene-disease association. This gene should be made Green at the next review (tagged with "for-review"). This gene is also Green on the following panels: - Ophthalmological ciliopathies (Version 1.13) - Skeletal ciliopathies (Version 1.4) - Rare multisystem ciliopathy disorders (Version 1.130) |
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Retinal disorders v2.74 | IFT172 | Ivone Leong Tag for-review tag was added to gene: IFT172. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.74 | IFT172 | Ivone Leong Mode of inheritance for gene: IFT172 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.73 | IFT172 | Ivone Leong Phenotypes for gene: IFT172 were changed from to Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.72 | IFT172 | Ivone Leong Publications for gene: IFT172 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.17 | IFT172 | Zornitza Stark reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 25168386, 29659833; Phenotypes: Retinitis pigmentosa 71, MIM# 616394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.5 | IFT172 | Ivone Leong reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinal disorders v2.3 | IFT172 |
Ivone Leong gene: IFT172 was added gene: IFT172 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: IFT172 was set to |