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| Structural eye disease v1.11 | LRP5 | Sarah Leigh Added comment: Comment on mode of inheritance: The eye disorders relevant to this panel are associated with Osteoporosis-pseudoglioma syndrome 259770, which is biallelic. Exudative vitreoretinopathy 4, 601813, which can be biallelic or monoallelic is relavant to the Retinal disorders panel, where both biallelic and monoallelic variants are considered (https://panelapp.genomicsengland.co.uk/panels/307/gene/LRP5/#!review). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.11 | LRP5 | Sarah Leigh Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.10 | LRP5 | Sarah Leigh Publications for gene: LRP5 were set to 29131652, 28111184, 20034086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | LRP5 | Nicola Ragge reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29131652, 28111184, 20034086; Phenotypes: Osteoporosis-pseudoglioma syndrome, Exudative vitreoretinopathy 4, Osteopetrosis, autosomal dominant 1, van Buchem disease, type 2, 259770, 601813, 607634, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.73 | LRP5 | Ivone Leong Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.47 | LRP5 | Ivone Leong edited their review of gene: LRP5: Changed phenotypes: Osteoporosis-pseudoglioma syndrome, 259770, Exudative vitreoretinopathy 4, 601813, Osteopetrosis, autosomal dominant 1, 607634, van Buchem disease, type 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | LRP5 | Ivone Leong reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29131652, 28111184, 20034086; Phenotypes: Bardet-Biedl syndrome 17, 615994; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | LRP5 |
Ivone Leong Source NHS GMS was added to LRP5. Source Expert Review Green was added to LRP5. Mode of inheritance for gene LRP5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Osteopetrosis, autosomal dominant 1, 607634; Osteoporosis-pseudoglioma syndrome, 259770; van Buchem disease, type 2; Exudative vitreoretinopathy 4, 601813 for gene: LRP5 Publications for gene LRP5 were changed from to 29131652, 28111184, 20034086 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | LRP5 |
Ellen McDonagh gene: LRP5 was added gene: LRP5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: LRP5 was set to Phenotypes for gene: LRP5 were set to Eye Disorders |
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