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Mendeliome

Gene: LGR4

Amber List (moderate evidence)

LGR4 (leucine rich repeat containing G protein-coupled receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000205213
EnsemblGeneIds (GRCh37): ENSG00000205213
OMIM: 606666, Gene2Phenotype
LGR4 is in 1 panel

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 36538378 - hom canonical splice variant in an infant with failure to thrive, severe salt-wasting crises associated with isolated hypoaldosteronism, nail anomalies, short stature, and deafness. Multiple affected siblings but all deceased, two normal siblings found to be het or wildtype. Functional studies proved INFRAME exon 6 skipping, patients cell shad minimal protein.
Conditional K/O mouse model showed reduced expression of Wnt target genes, adrenal hypoplasia and aberrant zonal differentiation

gnomAD: no hom PTCs

PMID: 32493844 - 6 patients with delayed puberty, supported by functional studies on mice displaying impaired Wnt/β-catenin signaling. Recurring missense p.G363C present in 4/6 families, but super common in the population (67 homozygotes).
Created: 2 Mar 2023, 3:22 a.m. | Last Modified: 2 Mar 2023, 3:27 a.m.
Panel Version: 1.689
PMID: 32493844 - 6 patients with delayed puberty, supported by functional studies on mice displaying impaired Wnt/β-catenin signaling. Recurring missense p.G363C present in 4/6 families, but super common in the population (67 homozygotes).
Created: 6 Jul 2020, 5:32 a.m. | Last Modified: 6 Jul 2020, 5:32 a.m.
Panel Version: 0.3239

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Bone mineral density, low, susceptibility to} MIM#615311

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Bone mineral density, low, susceptibility to} MIM#615311
  • Delayed puberty, self-limited MIM#619613
  • Syndromic disease, LGR4-related (MONDO#0002254)
OMIM
606666
Clinvar variants
Variants in LGR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2023, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: LGR4 were changed from {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254) to {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254)

2 Mar 2023, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: LGR4 were changed from Delayed puberty to {Bone mineral density, low, susceptibility to} MIM#615311; Delayed puberty, self-limited MIM#619613; Syndromic disease, LGR4-related (MONDO#0002254)

2 Mar 2023, Gel status: 2

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: LGR4 were set to 32493844

2 Mar 2023, Gel status: 2

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LGR4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lgr4 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LGR4 were set to

6 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LGR4 were changed from to Delayed puberty

6 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LGR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lgr4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LGR4 was added gene: LGR4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LGR4 was set to Unknown