Paediatric disorders - additional genes
Gene: LRIG2

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

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.

Panel Version: 1.96

Created: 10 Mar 2022, 3:53 p.m.
Last Modified: 10 Mar 2022, 3:53 p.m.
Panel version: 1.96

Rebecca Foulger (Genomics England curator)

Comment on list classification: Three unrelated cases reported in PMID:23313374 (Stuart et al., 2013), although in one of the families siblings with the same homozygous variant report differing phenotypes. There is also an animal model. The facial phenotype that occurs alongside the urinary tract phenotype is an abnormal facial expression upon smiling rather than a congenital structural phenotype. Therefore have kept Amber for now awaiting clinical review.
Created: 14 May 2020, 8:45 p.m. | Last Modified: 14 May 2020, 8:45 p.m.

Panel Version: 1.47

PMID:23313374. Stuart et al., 2013 performed exome sequencing in affected siblings from a consanguineous Turkish family with urofacial syndrome. A 1bp deletion variant resulting in premature termination (Glu140AspfsTer6) was found in an 8 year old girl, but also in her 5 year old brother who exhibited the facial features but not CAKUT phenotype. The variant was found in heterozygosity in the unaffected first-cousin parents.

In a second Turkish family with urofacial syndrome, two affected sisters were homozygous for a nonsense LRIG2 variant (R709X). A third case comes from a 5year old Spanish girl compound het for a 1bp deletion (Ser697HisfsTer11) and 371bp insertion variant in LRIG2. Her unaffected parents were each heterozygous for one of the variants.

Facial phenotypes of Urofacial syndrome include grimacing on smiling.
Created: 14 May 2020, 8:37 p.m. | Last Modified: 14 May 2020, 8:37 p.m.

Panel Version: 1.46

Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Created: 12 May 2020, 4:17 p.m. | Last Modified: 12 May 2020, 4:17 p.m.

Panel Version: 1.4

Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106. Note that LRIG2 is on V14.137 Paediatric panel already but with Amber rating.
Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.

Panel Version: 1.4

Created: 12 May 2020, 3:57 p.m.
Last Modified: 12 May 2020, 3:57 p.m.
Panel version: 1.46

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

CAKUT
Urofacial syndrome 2, 615112
Congenital bladder disease: dyssynergic, high pressure bladder.
Urofacial syndrome

OMIM

608869

Clinvar variants

Variants in LRIG2

Penetrance

None

Publications

23313374

Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: LRIG2.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to LRIG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 May 2020, Gel status: 2