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Newborns main panel

Gene: LRP4

Amber List (moderate evidence)
LRP4 (LDL receptor related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 29355968 - 2 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital myasthenic syndrome-17
OMIM
604270
Clinvar variants
Variants in LRP4
Penetrance
None
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LRP4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital myasthenic syndrome-17 for gene: LRP4

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LRP4. Added phenotypes Congenital myasthenic syndrome-17 for gene: LRP4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LRP4. Added phenotypes Congenital myasthenic syndrome-17 for gene: LRP4 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: LRP4 was added gene: LRP4 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Congenital myasthenic syndrome-17