Structural eye disease

Gene: LRP5

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)

Created: 21 Sep 2020, 11:18 a.m. | Last Modified: 21 Sep 2020, 11:18 a.m.

Panel Version: 1.11

Green List (high evidence)

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 biallelic

Created: 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

• 29131652, 28111184, 20034086

Green List (high evidence)

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 biallelic

Created: 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

• 29131652, 28111184, 20034086