Structural eye disease
Gene: LRP5Comment 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).Created: 21 Sep 2020, 11:18 a.m. | Last Modified: 21 Sep 2020, 11:18 a.m.
Panel Version: 1.11
Astiazaran: one family with microphthalmia and homozygous nonsense, het in parents. Ergun: one family with microphthalmia, homozygous splice site variant segregates. Narumi: one case with microphthalmia and compound het missenses, mother was het for one of them, father unavailable, all cases biallelicCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Osteopetrosis, autosomal dominant 1; van Buchem disease, type 2; 259770; 601813; 607634;
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Astiazaran: one family with microphthalmia and homozygous nonsense, het in parents. Ergun: one family with microphthalmia, homozygous splice site variant segregates. Narumi: one case with microphthalmia and compound het missenses, mother was het for one of them, father unavailable, all cases biallelicCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteoporosis-pseudoglioma syndrome, 259770; Exudative vitreoretinopathy 4, 601813; Osteopetrosis, autosomal dominant 1, 607634; van Buchem disease, type 2
Publications
Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP5 were set to 29131652, 28111184, 20034086
Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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)
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