Polycystic liver disease interimGene: LRP5
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
Polycystic liver; renal cysts
Mode of pathogenicity
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 12 Mar 2019, 11:26 a.m.
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.
Phenotypes for gene: LRP5 were changed from Polycystic liver disease 4 with or without kidney cysts (617875) to Polycystic liver disease 4 with or without kidney cysts, OMIM:617875
Gene: lrp5 has been classified as Green List (High Evidence).
gene: LRP5 was added gene: LRP5 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRP5 were set to 25920554 Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)