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Retinal disorders

Gene: LRP1

Red List (low evidence)

LRP1 (LDL receptor related protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123384
EnsemblGeneIds (GRCh37): ENSG00000123384
OMIM: 107770, Gene2Phenotype
LRP1 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.
Created: 14 Sep 2021, 9:40 a.m. | Last Modified: 14 Sep 2021, 9:40 a.m.
Panel Version: 2.209

Zornitza Stark (Australian Genomics)

Red List (low evidence)

PMID: 33776059 - 2x unrelated individuals with compound heterozygous missense variants and inherited retinal disorder/macular drusen. No functional data.
Sources: Literature
Created: 13 Sep 2021, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Macular drusen



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Macular drusen
Clinvar variants
Variants in LRP1
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lrp1 has been classified as Red List (Low Evidence).

13 Sep 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LRP1 was added gene: LRP1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: LRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP1 were set to 33776059 Phenotypes for gene: LRP1 were set to Macular drusen Review for gene: LRP1 was set to RED