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| Stickler syndrome v4.4 | LRP2 | Arina Puzriakova Classified gene: LRP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v4.4 | LRP2 |
Arina Puzriakova Added comment: Comment 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. |
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| Stickler syndrome v4.4 | LRP2 | Arina Puzriakova Gene: lrp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v4.1 | LRP2 | Dmitrijs Rots reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v2.16 | LRP2 | Ivone Leong Phenotypes for gene: LRP2 were changed from to Stickler syndrome, MONDO:0019354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v1.32 | LRP2 | Anna de Burca Classified gene: LRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v1.32 | LRP2 | Anna de Burca Gene: lrp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome v1.31 | LRP2 |
Anna de Burca 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 Added comment: Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub. Sources: Expert list |
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