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  2. Structural eye disease
  3. LRP2
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Structural eye disease

Gene: LRP2

Green List (high evidence)
LRP2 (LDL receptor related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000081479
EnsemblGeneIds (GRCh37): ENSG00000081479
OMIM: 600073, Gene2Phenotype
LRP2 is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Kantarci: two cases with coloboma, another case by Kantarci and Ragge
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Donnai-Barrow syndrome, 222448

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Promoted from amber to green as there is sufficient evidence.
Created: 24 Apr 2019, 2:37 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Kantarci: two cases with coloboma, another case by Kantarci and Ragge
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Donnai-Barrow syndrome, 222448

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Donnai-Barrow syndrome, 222448
OMIM
600073
Clinvar variants
Variants in LRP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LRP2. Source Expert Review Green was added to LRP2. Added phenotypes Donnai-Barrow syndrome, 222448 for gene: LRP2 Publications for gene LRP2 were changed from 17632512, 8266995 to 8266995; 18553518; 17632512 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Jan 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: LRP2 was added gene: LRP2 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP2 were set to 17632512, 8266995 Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448