CAKUT
Gene: LRIG2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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Supporting evidence from Lrig2 null mutant mouse with congenital bladder phenotype (unpublished data - own laboratory).Created: 7 Apr 2016, 12:41 p.m.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
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, Gülpınar O, Süer E, Yalçınkaya F, Gücük 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.
This gene has been classified as Green List (High Evidence).
Phenotypes for LRIG2 were set to Urofacial syndrome; Congenital bladder disease: dyssynergic, high pressure bladder.
Publications for 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, Gülpınar O, Süer E, Yalçınkaya F, Gücük 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.
Mode of inheritance for LRIG2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LRIG2 was added to CAKUTpanel. Sources: Expert Review