Renal and urinary tract disorders
Gene: LRIG2EnsemblGeneIds (GRCh38): ENSG00000198799
EnsemblGeneIds (GRCh37): ENSG00000198799
OMIM: 608869, Gene2Phenotype
LRIG2 is in 6 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
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.
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.
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
Supporting evidence from Lrig2 null mutant mouse with congenital bladder phenotype (unpublished data - own laboratory).Created: 7 Apr 2016, 12:41 p.m.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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital bladder disease: dyssynergic, high pressure bladder.
- Urofacial syndrome 2 615112
- Urofacial syndrome
- OMIM
- 608869
- Clinvar variants
- Variants in LRIG2
- Penetrance
- None
- 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, 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.
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Adrian Woolf: Supporting evidence from Lrig2
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: LRIG2 were changed from Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome 2; Urofacial syndrome to Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome 2 615112; Urofacial syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Urofacial syndrome 2 for gene: LRIG2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LRIG2 was added gene: LRIG2 was added to Renal and urinary tract disorders. 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 Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome