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Mendeliome

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 5 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic LRIG2 variants identified in 3 probands with Urofacial syndrome. One proband was identified due to megacystis visualized on ultrasound in late gestation. The other two proband presented at 4 and 5 years with vesicoureteral reflux, overactive bladder, mild renal impairment. A fourth proband presented at 7 years with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux. A homozygous LRIG2 nonsense was said to cause the vesicoureteral reflux and a homozygous LIG4 variants is believed to be responsible for other clinical features. Mouse model showed urinary defects resembling those found in urofacial syndrome.
Created: 9 May 2022, 4:23 a.m. | Last Modified: 9 May 2022, 4:23 a.m.
Panel Version: 0.13967

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urofacial syndrome 2, MIM# 615112

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Urofacial syndrome 2, MIM# 615112
OMIM
608869
Clinvar variants
Variants in LRIG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: lrig2 has been classified as Green List (High Evidence).

9 May 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: LRIG2 were changed from to Urofacial syndrome 2, MIM# 615112

9 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LRIG2 were set to 23313374; 27855655; 30885509

9 May 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LRIG2 were set to

9 May 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LRIG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRIG2 was added gene: LRIG2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRIG2 was set to Unknown