Unexplained kidney failure in young people
Gene: LRIG2EnsemblGeneIds (GRCh38): ENSG00000198799
EnsemblGeneIds (GRCh37): ENSG00000198799
OMIM: 608869, Gene2Phenotype
LRIG2 is in 6 panels
1 review
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Urofacial syndrome 2 615112
- OMIM
- 608869
- Clinvar variants
- Variants in LRIG2
- Penetrance
- Complete
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: LRIG2 were changed from Urofacial syndrome 2 615112 to Urofacial syndrome 2 615112
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)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, 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.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for LRIG2 were set to Urofacial syndrome 2 615112
Upload gene information
Sarah Leigh (Genomics England Curator)LRIG2 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for LRIG2 were set to Urofacial syndrome 2 615112; Congenital bladder disease: dyssynergic, high pressure bladder.
Added New Source
Sarah Leigh (Genomics England Curator)LRIG2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)LRIG2 was created by sleigh