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Unexplained young onset end-stage renal disease - additional genes

Gene: LRIG2

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

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported
Created: 4 Aug 2016, 2:14 p.m.
Comment on publications: 23313374
Created: 4 Aug 2016, 2:14 p.m.
Created: 4 Aug 2016, 2:14 p.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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Supporting evidence from Lrig2 null mutant mouse with congenital bladder phenotype (unpublished data - own laboratory).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

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Urofacial syndrome 2, OMIM:615112
  • Congenital bladder disease: dyssynergic, high pressure bladder
OMIM
608869
Clinvar variants
Variants in LRIG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LRIG2 were changed from Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 to Urofacial syndrome 2, OMIM:615112; Congenital bladder disease: dyssynergic, high pressure bladder

27 Sep 2024, Gel status: 3

Set publications

Achchuthan Shanmugasundram (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, 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.

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome; Urofacial syndrome 2 615112 for gene: LRIG2

25 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: LRIG2 was added gene: LRIG2 was added to Unexplained young onset end-stage renal disease - additional genes. 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.