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Prepair 1000+

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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Urofacial syndrome (UFS; also known as Ochoa syndrome) is characterized by prenatal or childhood onset of urinary bladder voiding dysfunction, abnormal facial movement with expression (resulting from abnormal co-contraction of the corners of the mouth and eyes), and often bowel dysfunction (constipation and/or encopresis). Bladder voiding dysfunction can present before birth as megacystis.
Created: 5 Mar 2025, 4:17 a.m. | Last Modified: 5 Mar 2025, 4:17 a.m.
Panel Version: 1.1566

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
  • Mackenzie's Mission
Phenotypes
  • Urofacial syndrome 2, 615112 (3)
OMIM
608869
Clinvar variants
Variants in LRIG2
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRIG2 was added gene: LRIG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)