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| Retinal disorders v2.296 | HK1 | Arina Puzriakova Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79, OMIM:617460; retinitis pigmentosa 79,MONDO:0044320 to Retinitis pigmentosa 79, OMIM:617460; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.286 | HK1 | Eleanor Williams Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320 to Retinitis pigmentosa 79, OMIM:617460; retinitis pigmentosa 79,MONDO:0044320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | HK1 | Ivone Leong Tag for-review was removed from gene: HK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | HK1 | Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | HK1 | Ivone Leong commented on gene: HK1: Submitted on behalf of NHS GMS "Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature." and "This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | HK1 | Ivone Leong commented on gene: HK1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature. This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.243 | HK1 |
Ivone Leong Source Expert Review Green was added to HK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.120 | HK1 | Ivone Leong commented on gene: HK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.120 | HK1 | Ivone Leong Tag for-review tag was added to gene: HK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.120 | HK1 | Ivone Leong Publications for gene: HK1 were set to 25190649; 25316723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.119 | HK1 | Ivone Leong Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79 617460 to Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.17 | HK1 |
Zornitza Stark changed review comment from: Subsequent reported families are Asian, but with same recurrent missense. I am not convinced this is founder effect. Gene is associated with multiple phenotypes and this particular missense may have a specific effect that results in this particular phenotype. The variant is however present in 3 hets in gnomad (2 Asian, 1 European). This frequency may be compatible with AD retinitis pigmentosa.; to: Subsequent reported families are Asian, but with same recurrent missense. I am not convinced this is founder effect. Gene is associated with multiple phenotypes and this particular missense may have a specific effect that results in this particular phenotype. The variant is however present in 3 hets in gnomad (2 Asian, 1 European). This frequency may be compatible with AD retinitis pigmentosa. However, also note PMID 30778173, where other mono-allelic variants have been linked to a neurodevelopmental disorder which includes visual impairment, and for this reason Green rating on this panel may still be appropriate. |
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| Retinal disorders v2.17 | HK1 | Zornitza Stark edited their review of gene: HK1: Changed rating: GREEN; Changed publications: 25316723, 25190649, 31621442, 32814480, 30778173 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.17 | HK1 | Zornitza Stark reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316723, 25190649, 31621442, 32814480; Phenotypes: Retinitis pigmentosa 79, MIM# 617460; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.159 | HK1 | Gavin Arno reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.137 | HK1 | Ivone Leong Source NHS GMS was added to HK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders | HK1 | Ellen McDonagh classified HK1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders | HK1 | Ellen McDonagh added HK1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders | HK1 | Ellen McDonagh reviewed HK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||