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DDG2P

Gene: LRPAP1

Green List (high evidence)
LRPAP1 (LDL receptor related protein associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163956
EnsemblGeneIds (GRCh37): ENSG00000163956
OMIM: 104225, Gene2Phenotype
LRPAP1 is in 1 panel

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for LRPAP1-related myopia, extreme are definitive, biallelic_autosomal and loss of function (PMID:23830514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00056.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease EXTREME MYOPIA;MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:23830514).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431; EXTREME MYOPIA; MONDO:0014183; OMIM:615431.0; LRPAP1-related myopia, extreme

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • MYOPIA 23, AUTOSOMAL RECESSIVE 615431
  • EXTREME MYOPIA
OMIM
104225
Clinvar variants
Variants in LRPAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to LRPAP1. Rating Changed from Red List (low evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: LRPAP1 was added gene: LRPAP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPAP1 were set to 23830514 Phenotypes for gene: LRPAP1 were set to MYOPIA 23, AUTOSOMAL RECESSIVE 615431; EXTREME MYOPIA