Unexplained young onset end-stage renal disease
Gene: LRIG2
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 4 Aug 2016, 2:14 p.m.
Comment on publications: 23313374Created: 4 Aug 2016, 2:14 p.m.
Comment on list classification: Gene added by reviewer. Both reviewers agree this should be a green gene. It is a probable DD gene for urofacial syndrome in G2P.Created: 22 Apr 2016, 12:27 p.m.
Supporting evidence from Lrig2 null mutant mouse with congenital bladder phenotype (unpublished data - own laboratory).Created: 7 Apr 2016, 12:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital bladder disease: dyssynergic, high pressure bladder.
Publications
gene: LRIG2 was added gene: LRIG2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013. Phenotypes for gene: LRIG2 were set to Urofacial syndrome; Urofacial syndrome 2 615112; Congenital bladder disease: dyssynergic, high pressure bladder.