Ductal plate malformation
Gene: LRP5
Not aware of exceptions to loss of functionCreated: 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
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 givenCreated: 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
Added phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) for gene: LRP5
Source NHS GMS was added to LRP5.
Ivone Leong: There are 4 families with diff
Gene: lrp5 has been classified as Green List (High Evidence).
Publications for gene: LRP5 were set to
Source Expert Review Green was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence)
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)