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  3. LRIG2
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Fetal anomalies

Gene: LRIG2

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sahar Mansour (St George's Hospital, London)

I don't know

3 papers with same phenotype. Usually presents postnatally but one proband was identified due to megacystis visualized on ultrasound in late gestation. Green on Australian panel.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urofacial syndrome 2, MIM#615112

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
AR Urofacial syndrome (Ochoa syndrome). Overactive detrusor muscle resulting in VUR, with abnormal facial expression. Would not do R21 for isolated VUR so probably not for inclusion? OMIM: Urofacial syndrome (UFS) is characterized by prenatal or infantile onset of urinary bladder voiding dysfunction, Stuart et al 2013 II:1 Megacystis was visualized on ultrasonography in late gestation. Gene review: Antenatal ultrasound examination (if performed) is frequently described as abnormal and is associated with megacystis, hydroureteronephrosis, and renal pelvis dilatation [Sklov et al 2006, Bacchetta & Cochat 2010, Daly et al 2010, Stuart et al 2013]. Note Stuart et al is only cases for LRIG2 gene. Relevant but only 1 case, 1 paper
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urofacial syndrome 2, OMIM:615112

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for UROFACIAL SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Urofacial syndrome 2, OMIM:615112
OMIM
608869
Clinvar variants
Variants in LRIG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to LRIG2. Publications for gene: LRIG2 were updated from to 30885509; 27855655; 23313374

5 May 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LRIG2 were changed from UROFACIAL SYNDROME; Urofacial syndrome 2, OMIM:615112 to Urofacial syndrome 2, OMIM:615112

5 May 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Urofacial syndrome 2, OMIM:615112 for gene: LRIG2

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: LRIG2 was added gene: LRIG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME