Stickler syndrome
Gene: LRP2Comment on list classification: Demoted from Amber to Red inline with review by Dmitrijs Rots.
Only a single family reported with features overlapping those of Stickler syndrome (PMID:23992033), mainly based on their ocular phenotype, including high myopia, vitreous changes, cataract and esotropia. LRP2 variants are typically associated with Donnai-Barrow syndrome and facio-oculo-acoustico-renal syndrome which are not relevant to this panel.Created: 17 Apr 2024, 10:27 a.m. | Last Modified: 17 Apr 2024, 10:27 a.m.
Panel Version: 4.4
not enough evidence for AD Stickler syndrome.Created: 20 Aug 2023, 9:38 a.m. | Last Modified: 20 Aug 2023, 9:38 a.m.
Panel Version: 4.1
Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub.
Sources: Expert listCreated: 5 Apr 2019, 4:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Gene: lrp2 has been classified as Red List (Low Evidence).
Phenotypes for gene: LRP2 were changed from to Stickler syndrome, MONDO:0019354
Gene: lrp2 has been classified as Amber List (Moderate Evidence).
gene: LRP2 was added gene: LRP2 was added to Stickler syndrome. Sources: Expert list Mode of inheritance for gene: LRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP2 were set to 23992033 Review for gene: LRP2 was set to AMBER