CAKUT
Gene: LRIG2

LRIG2 (leucine rich repeats and immunoglobulin like domains 2)
EnsemblGeneIds (GRCh38): ENSG00000198799
EnsemblGeneIds (GRCh37): ENSG00000198799
OMIM: 608869, Gene2Phenotype
LRIG2 is in 6 panels

3 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

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.

Created: 22 Apr 2016, 12:27 p.m.

Panel version: 0.94

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Green List (high evidence)

Supporting evidence from Lrig2 null mutant mouse with congenital bladder phenotype (unpublished data - own laboratory).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

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.

Created: 7 Apr 2016, 12:41 p.m.

Panel version: 0.64

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Urofacial syndrome
Congenital bladder disease: dyssynergic, high pressure bladder.

OMIM

608869

Clinvar variants

Variants in LRIG2

Penetrance

Complete

Publications

23313374

Panels with this gene

History Filter Activity

14 May 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

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.

22 Apr 2016, Gel status: 4