Retinal disorders
Gene: LRPAP1

LRPAP1 (LDL receptor related protein associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163956
EnsemblGeneIds (GRCh37): ENSG00000163956
OMIM: 104225, Gene2Phenotype
LRPAP1 is in 2 panels

1 review

Nicky Cronbach (UCL/Moorfields Eye Hospital)

Green List (high evidence)

Sources: Literature
Created: 10 Sep 2026, 12:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-syndromic high myopia; early-onset high myopia; pathological myopia

Publications

Created: 10 Sep 2026, 12:28 p.m.

Panel version: 9.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Non-syndromic high myopia
early-onset high myopia
pathological myopia

OMIM

104225

Clinvar variants

Variants in LRPAP1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Sep 2026, Gel status: 0

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

Nicky Cronbach (UCL/Moorfields Eye Hospital)

gene: LRPAP1 was added gene: LRPAP1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPAP1 were set to PMID: 23830514; 33951325; 31607522; 39444998 Phenotypes for gene: LRPAP1 were set to Non-syndromic high myopia; early-onset high myopia; pathological myopia Penetrance for gene: LRPAP1 were set to Complete Review for gene: LRPAP1 was set to GREEN

Retinal disorders Gene: LRPAP1