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  2. Ocular coloboma
  3. LRP2
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Ocular coloboma

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

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green as there are now 3 unrelated cases of patients with different variants in this gene.
Created: 12 Apr 2019, 1:55 p.m.
Created: 12 Apr 2019, 1:55 p.m.

Panel version: 1.29

Alice Gardham (Genomics England)

Coloboma are a recognised feature of Donnai-Barrow . Recognised on G2P as causing coloboma
Created: 17 Nov 2016, 11:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Donnai-Barrow syndrome, 222448

Publications

Created: 17 Nov 2016, 11:29 a.m.

Panel version: 0.46

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Donnai-Barrow syndrome, 222448
OMIM
600073
Clinvar variants
Variants in LRP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lrp2 has been classified as Green List (High Evidence).

12 Apr 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LRP2 were set to 17632512, 8266995; 18553518

12 Apr 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LRP2 were set to 17632512, 8266995

6 Feb 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

17 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

LRP2 was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature

17 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

LRP2 was created by agardham