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Newborns main panel

Gene: LRP5

Green List (high evidence)
LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: There is an additional overlapping AR phenotype associated with LRP5, Exudative vitreoretinopathy 4. This is not included in the study. Consider NVD if uncertain whether to report variant(s).
Created: 25 Sep 2024, 2:53 p.m. | Last Modified: 25 Sep 2024, 2:53 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 2:53 p.m.
Last Modified: 25 Sep 2024, 2:53 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
is this a semidominant for which we are only interested in AR? -> KS: This phenotype is only associated with AR MOI
Created: 17 May 2023, 1:49 p.m. | Last Modified: 17 May 2023, 1:49 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:49 p.m.
Last Modified: 17 May 2023, 1:49 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: LRP5.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteoporosis-pseudoglioma syndrome for gene: LRP5

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LRP5. Added phenotypes Osteoporosis-pseudoglioma syndrome for gene: LRP5 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LRP5. Added phenotypes Osteoporosis-pseudoglioma syndrome for gene: LRP5 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to LRP5. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteoporosis-pseudoglioma syndrome for gene: LRP5

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: LRP5 was added gene: LRP5 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal