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Stickler syndrome

Gene: LRP2

Red List (low evidence)
LRP2 (LDL receptor related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000081479
EnsemblGeneIds (GRCh37): ENSG00000081479
OMIM: 600073, Gene2Phenotype
LRP2 is in 8 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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.
Created: 17 Apr 2024, 10:27 a.m. | Last Modified: 17 Apr 2024, 10:27 a.m.
Panel Version: 4.4
Created: 17 Apr 2024, 10:27 a.m.
Last Modified: 17 Apr 2024, 10:27 a.m.
Panel version: 4.4

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

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
Created: 20 Aug 2023, 9:38 a.m.
Last Modified: 20 Aug 2023, 9:38 a.m.
Panel version: 4.1

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub.
Sources: Expert list
Created: 5 Apr 2019, 4:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 5 Apr 2019, 4:47 p.m.

Panel version: 1.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Stickler syndrome, MONDO:0019354
OMIM
600073
Clinvar variants
Variants in LRP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lrp2 has been classified as Red List (Low Evidence).

3 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LRP2 were changed from to Stickler syndrome, MONDO:0019354

5 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Gene: lrp2 has been classified as Amber List (Moderate Evidence).

5 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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