Activity
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11 actions
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| Retinal disorders v8.97 | C19orf44 |
Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: C19orf44. Tag Q1_25_ promote_green was removed from gene: C19orf44. |
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| Retinal disorders v8.97 | C19orf44 | Eleanor Williams reviewed gene: C19orf44: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.96 | C19orf44 |
Eleanor Williams Source NHS GMS was added to C19orf44. Source Expert Review Green was added to C19orf44. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.25 | C19orf44 | Sarah Leigh reviewed gene: C19orf44: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.25 | C19orf44 | Sarah Leigh Phenotypes for gene: C19orf44 were changed from retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy to late onset retinal dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.24 | C19orf44 | Sarah Leigh Publications for gene: C19orf44 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.23 | C19orf44 | Sarah Leigh Mode of pathogenicity for gene: C19orf44 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.22 | C19orf44 |
Sarah Leigh Tag Q1_25_ NHS_review tag was added to gene: C19orf44. Tag Q1_25_ promote_green tag was added to gene: C19orf44. |
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| Retinal disorders v7.22 | C19orf44 | Sarah Leigh Classified gene: C19orf44 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.22 | C19orf44 | Sarah Leigh Gene: c19orf44 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.1 | C19orf44 |
Andrew Webster gene: C19orf44 was added gene: C19orf44 was added to Retinal disorders. Sources: Research Mode of inheritance for gene: C19orf44 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf44 were set to retinal dystrophy; macular dystrophy; cone-rod dystrophy; rod-cone dystrophy Penetrance for gene: C19orf44 were set to unknown Mode of pathogenicity for gene: C19orf44 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: C19orf44 was set to GREEN Added comment: Publication accepted by Genetics In Medicine, involving four LOF alleles in 15 affected individuals from 11 families, with four centres contributing (Israel, Boston, Basel, London (UCL/MEH)). GENETMED-D-24-00741R2 Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy Sources: Research |
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