Congenital Myasthenia
Gene: LRP4

LRP4 (LDL receptor related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families and a mouse model.
Created: 24 Oct 2020, 9:04 a.m. | Last Modified: 24 Oct 2020, 9:04 a.m.

Panel Version: 0.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 17, MIM# 616304

Publications

Created: 24 Oct 2020, 9:04 a.m.
Last Modified: 24 Oct 2020, 9:04 a.m.
Panel version: 0.41

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Myasthenic syndrome, congenital, 17, 616304

OMIM

604270

Clinvar variants

Variants in LRP4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp4 has been classified as Green List (High Evidence).

24 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRP4 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LRP4 was added gene: LRP4 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304

Congenital Myasthenia Gene: LRP4