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  3. LRP5
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Ductal plate malformation

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

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

Not aware of exceptions to loss of function
Created: 25 Nov 2018, 8:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver; renal cysts

Publications

Mode of pathogenicity
Other

Created: 25 Nov 2018, 8:38 a.m.

Panel version: 0.35

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: LRP5; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 9:38 a.m.
Comment when marking as ready: LRP5 is a disease causing gene of Polycystic liver disease 4, which is confirmed in OMIM.
Created: 26 Nov 2018, 10:57 a.m.
There are 4 families with different substitution mutations in LRP5 (3 Dutch families and 1 Moroccan family). In vitro cell studies showed that one of the variants affected WNT signalling.
Created: 12 Nov 2018, 1:55 p.m.

Publications

Created: 12 Nov 2018, 1:55 p.m.

Panel version: 1.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic liver disease 4 with or without kidney cysts (617875)
OMIM
603506
Clinvar variants
Variants in LRP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) for gene: LRP5

8 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LRP5.

30 Nov 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: There are 4 families with diff

26 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lrp5 has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LRP5 were set to

12 Nov 2018, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence)

6 Nov 2018, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: LRP5 was added gene: LRP5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)