Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: LRP4

Green List (high evidence)

LRP4 (LDL receptor related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LRP4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cenani-Lenz syndactyly syndrome, 212780 (3) | ?Myasthenic syndrome, congenital, 17, 616304 (3) | Sclerosteosis 2, 614305 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Myasthenic syndrome, congenital, 17, 616304
  • Cenani-Lenz syndactyly syndrome, 212780
  • Sclerosteosis 2, 614305
OMIM
604270
Clinvar variants
Variants in LRP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics Eng